VU Medicinos fakulteto autoriaus 'Algirdas Utkus' publikacijų sąrašas

2024
1 Lesinskienė, Sigita; Žilinskas, Emilijus; Utkus, Algirdas; Marčiukaitytė, Rūta; Vasiliauskaitė, Gabrielė; Stankevičiūtė, Rugilė; Kinčinienė, Odeta. Fetal alcohol spectrum disorders and inadequacy of care: importance of raising awareness in clinical practice // Children. Basel : MDPI. ISSN 2227-9067. 2024, vol. 11, iss. 1, art. no. 5, p. [1-11]. DOI: 10.3390/children11010005. [DB: Science Citation Index Expanded (Web of Science), Scopus]

2023
1 Grigalionienė, Kristina; Burnytė, Birutė; Balkelienė, Danutė; Ambrozaitytė, Laima; Utkus, Algirdas. Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion // Molecular genetics & genomic medicine. Hoboken : Wiley. ISSN 2324-9269. 2023, vol. 11, no. 1, art. no. e2059, p. [1-6]. DOI: 10.1002/mgg3.2059. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
2 Strumila, Robertas; Zdanavičius, Linas; Badaras, Robertas; Dlugauskas, Edgaras; Lesinskienė, Sigita; Matiekus, Eimantas; Marcinkevičius, Martynas; Vencevičienė, Lina; Utkus, Algirdas; Kaminskas, Andrius; Petrėnas, Tomas; Songailienė, Jurgita; Ambrozaitytė, Laima; Lengvenytė, Aistė. Significantly elevated phosphatidylethanol levels in recent suicide attempters, but not in depressed controls and healthy volunteers: Possible role of CRP and inflammation // Journal of psychiatric research. Oxford : Pergamon-Elsevier science Ltd. ISSN 0022-3956. eISSN 1879-1379. 2023, vol. 158, p. 245-254. DOI: 10.1016/j.jpsychires.2022.12.043. [DB: Science Citation Index Expanded (Web of Science), Scopus, Social Sciences Citation Index (Web of Science)]
3 Asadauskaitė, Greta; Morkūnienė, Aušra; Utkus, Algirdas; Burnytė, Birutė. Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 12 // Brain and development. Amsterdam : Elsevier B.V. ISSN 0387-7604. eISSN 1872-7131. 2023, vol. 45, iss. 3, p. 185-190. DOI: 10.1016/j.braindev.2022.11.003. [DB: Science Citation Index Expanded (Web of Science), Scopus]
4 Hashimoto, Daisuke; Kielaitė-Gulla, Aistė; Satoi, Sohei; Yamamoto, Tomohisa; Yamaki, So; Matsui, Yuki; Ohe, Chisato; Yamasaki, Makoto; Hamada, Madoka; Ikeura, Tsukasa; Shimatani, Masaaki; Breugelmans, Raoul; Utkus, Algirdas; Poškus, Tomas; Samuilis, Artūras; Miglinas, Marius; Laurinavičius, Arvydas; Tomoda, Koichi; Hendrixson, Vaiva; Sekimoto, Mitsugu; Strupas, Kęstutis. The academic impact and value of an international online surgery lecture series // Surgery today. New York : Springer. ISSN 0941-1291. eISSN 1436-2813. 2023, vol. 53, p. 1100-1104. DOI: 10.1007/s00595-023-02660-6. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
5 Burnytė, Birutė; Vilimienė, Ramunė; Grigalionienė, Kristina; Adomaitienė, Irina; Utkus, Algirdas. Cerebellar ataxia and peripheral neuropathy in a family with PNPLA8-associated disease // Neurology ; Genetics. Philadelphia : Lippincot Williams & Wilkins. ISSN 2376-7839. 2023, vol. 9, no. 3, art. no. e200068, p. [1-5]. DOI: 10.1212/NXG.0000000000200068. [DB: Science Citation Index Expanded (Web of Science), Scopus]
6 Kalinauskienė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Morkūnienė, Aušra; Utkus, Algirdas; Preikšaitienė, Eglė. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // Medicina. Basel : MDPI. ISSN 1010-660X. eISSN 1648-9144. 2023, vol. 59, iss. 6, art. no. 1156, p. [1-8]. DOI: 10.3390/ medicina59061156. [DB: Science Citation Index Expanded (Web of Science), Scopus]
7 Siavrienė, Evelina; Petraitytė, Gunda; Mikštienė, Violeta; Maldžienė, Živilė; Sasnauskienė, Aušra; Žitkutė, Vilmantė; Ambrozaitytė, Laima; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Molecular and functional characterisation of a novel intragenic 12q24.21 deletion resulting in MED13L haploinsufficiency syndrome // Medicina. Basel : MDPI. ISSN 1010-660X. eISSN 1648-9144. 2023, vol. 59, iss. 7, art. no. 1225, p. [1-14]. DOI: 10.3390/medicina59071225. [DB: Science Citation Index Expanded (Web of Science), Scopus]
8 Mazgelytė, Eglė; Valatkevičiūtė, Agnė; Songailienė, Jurgita; Utkus, Algirdas; Burokienė, Neringa; Karčiauskaitė, Dovilė. Association of hair glucocorticoid levels with sleep quality indicators: a pilot study in apparently healthy perimenopausal and menopausal women // Frontiers in endocrinology. Lausanne : Frontiers Media S.A. eISSN 1664-2392. 2023, vol. 14, art. no. 1186014, p. [1-9]. DOI: 10.3389/fendo.2023.1186014. [DB: Science Citation Index Expanded (Web of Science), Scopus]
9 Koido, Kati; Malmgren, Charlotta Ingvoldstad; Pojskic, Lejla; Almos, Peter Z.; Bergen, Sarah E.; Borg, Isabella; Božina, Nada; Coviello, Domenico A.; Degenhardt, Franziska; Ganoci, Lana; Jensen, Uffe B.; Durand-Lennad, Louise; Laurent-Levinson, Claudine; McQuillin, Andrew; Navickas, Alvydas; Pace, Nikolai P.; Paneque, Milena; Rietschel, Marcella; Grigoroiu-Serbanescu, Maria; Soller, Maria Johansson; Suvisaari, Jaana; Utkus, Algirdas; Van Assche, Evelien; Vissouze, Lily; Zuckerman, Shachar; Chaumette, Boris; Tammimies, Kristiina. Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study // European journal of medical genetics. Amsterdam : Elsevier. ISSN 1769-7212. eISSN 1878-0849. 2023, vol. 66, iss. 8, art. no. 104805, p. [1-10]. DOI: 10.1016/j.ejmg.2023.104805. [DB: Science Citation Index Expanded (Web of Science), Scopus]
10 Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L.; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H.; Talkowski, Michael; Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Goldstein, David B.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leech, Stephanie L.; Leu, Costin; O’Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Depondti, Chantal; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, André; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Yiolanda, Christou; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva; Kunz, Wolfram S.; Zsurka, Gábor; Surges, Rainer; Baumgartner, Tobias H.; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggräfe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; Rees, Mark I.; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert H. W.; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joe; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barišić, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Lino, Nobili; Amadori, Elisa; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiry-Zgheib, Nathalie; Tumienė, Birutė; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapıcı, Zuhal; Topaloglu, Pınar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben I.; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Newton, Charles R. J. C.; Kariuki, Symon M.; Wagner, Ryan G.; Owusu-Agyei, Seth; Cole, Andrew J.; McGraw, Christopher M.; Siena, S. Anthony; Davis, Lea; Hucks, Donald; Faucon, Annika; Wu, David; Abou-Khalil, Bassel W.; Haas, Kevin; Taneja, Randip S. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals // Nature communications. Berlin : Nature Portfolio. eISSN 2041-1723. 2023, vol. 14, iss. 1, art. no. 4392, p. [1-19]. DOI: 10.1038/s41467-023-39539-6. [DB: Science Citation Index Expanded (Web of Science), Scopus]
11 Rančelis, Tautvydas; Domarkienė, Ingrida; Ambrozaitytė, Laima; Utkus, Algirdas. Implementing core genes and an omnigenic model for behaviour traits prediction in genomics // Genes. Basel : MDPI. eISSN 2073-4425. 2023, vol. 14, iss. 8, art. no. 1630, p. [1-11]. DOI: 10.3390/genes14081630. [DB: Science Citation Index Expanded (Web of Science), Scopus]
12 Stevelink, Remi; Campbell, Ciarán; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Tumienė, Birutė; Utkus, Algirdas. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture // Nature genetics. Berlin : Springer Nature. ISSN 1061-4036. eISSN 1546-1718. 2023, vol. 55, p. 1471-1482. DOI: 10.1038/s41588-023-01485-w. [DB: Science Citation Index Expanded (Web of Science), Scopus]
13 Burnytė, Birutė; Asadauskaitė, Greta; Morkūnienė, Aušra; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Clinical and genetic spectrum in a cohort of Lithuanian patients with limb girdle muscular dystrophy // ASHG annual meeting 2023, Washington, November 1-5 : [abstracts] : The American Society of Human Genetics. 2023, abstract no. P3422, p. [1]. Prieiga per internetą: <https://eppro01.ativ.me/src/EventPilot/php/express/web/planner.php?id=ASHG23>.
14 Burnytė, Birutė; Senkevičiūtė, Greta; Morkūnienė, Aušra; Braždžiūnaitė, Deimantė; Utkus, Algirdas. Clinical and genetic characterisation of Lithuanian patients with muscle laminopathies // Journal of neuromuscular diseases: 4th International Meeting on Laminopathies, Madrid, 9-12 May, 2023. Amsterdam : IOS Press. ISSN 2214-3599. eISSN 2214-3602. 2023, vol. 10, no. S2, p. S9. DOI: 10.3233/JND-239001. [DB: Science Citation Index Expanded (Web of Science)]
15 Grigalionienė, Kristina; Burnytė, Birutė; Ambrozaitytė, Laima; Utkus, Algirdas. Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease // Orphanet journal of rare diseases. London : BMC. eISSN 1750-1172. 2023, vol. 18, art. no. 307, p. 1-10. DOI: 10.1186/s13023-023-02921-0. [DB: Science Citation Index Expanded (Web of Science)]
16 Burnytė, Birutė; Masaitienė, Raminta; Baronas, Karolis; Utkus, Algirdas. A novel SACS variant identified in a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference, June 11–14, 2022, Vienna, Austria: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. EP10.027, p. 194. DOI: 10.1038/s41431-023-01339-3. [DB: Science Citation Index Expanded (Web of Science)]
17 Braždžiūnaitė, Deimantė; Rudminienė, Ilona; Gudynaitė, Miglė; Strupaitė, Rasa; Mazur, Gabija; Miglinas, Marius; Utkus, Algirdas. Clinical and genetic features in two patients carrying PAX2 variants // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference: hybrid posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. P04.006.A, p. 376. DOI: 10.1038/s41431-023-01338-4. [DB: Science Citation Index Expanded (Web of Science)]
18 Dagytė, Evelina; Utkus, Algirdas. Copy number variant (CNV) analysis in couples with recurrent miscarriages // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference: hybrid posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. P01.023.C, p. 352. DOI: 10.1038/s41431-023-01338-4. [DB: Science Citation Index Expanded (Web of Science)]
19 Grigalionienė, Kristina; Burnytė, Birutė; Utkus, Algirdas; Ambrozaitytė, Laima. Nuclear DNA changes in patients with suspected mitochondrial disorder // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference, June 11–14, 2022, Vienna, Austria: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. EP07.001, p. 149. DOI: 10.1038/s41431-023-01339-3. [DB: Science Citation Index Expanded (Web of Science)]
20 Vaitėnienė, Evelina Marija; Utkus, Algirdas. The burden of congenital anomalies // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. EP12.006, p. 217-218. DOI: 10.1038/s41431-023-01339-3. [DB: Science Citation Index Expanded (Web of Science)]
21 Gryko, Mariusz; Łukaszewicz-Zając, Marta; Guzińska-Ustymowicz, Katarzyna; Kucharewicz, Mariola; Mroczko, Barbara; Utkus, Algirdas. The caspase-8 and procaspase-3 expression in gastric cancer and non-cancer mucosa in relation to clinico-morphological factors and some apoptosis-associated proteins // Advances in medical sciences. Wroclaw : Elsevier B.V. on behalf of Medical University of Bialystok. ISSN 1896-1126. eISSN 1898-4002. 2023, vol. 68, iss. 1, p. 94-100. DOI: 10.1016/j.advms.2023.02.001. [DB: Science Citation Index Expanded (Web of Science), Scopus]

2022
1 Ekkert, Aleksandra; Šliachtenko, Aleksandra; Grigaitė, Julija; Burnytė, Birutė; Utkus, Algirdas; Jatužis, Dalius. Ischemic stroke genetics: what is new and how to apply it in clinical practice? // Genes: Gene expression and chromatin modification in the brain. Basel : MDPI. eISSN 2073-4425. 2022, vol. 13, iss. 1, art. no. 48, p. [1-15]. DOI: 10.3390/genes13010048. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed, Embase]
2 Ginevičienė, Valentina; Utkus, Algirdas; Pranckevičienė, Erinija; Semenova, Ekaterina A.; Hall, Elliott C. R.; Ahmetov, Ildus I. Perspectives in sports genomics // Biomedicines. Basel : MDPI. eISSN 2227-9059. 2022, vol. 10, no. 2, art. no. 298, p. [1-16]. DOI: 10.3390/biomedicines10020298. [DB: Science Citation Index Expanded (Web of Science), Scopus]
3 Mazgelytė, Eglė; Burokienė, Neringa; Vysocka, Agata; Narkevičius, Martynas; Petrėnas, Tomas; Kaminskas, Andrius; Songailienė, Jurgita; Utkus, Algirdas; Karčiauskaitė, Dovilė. Higher levels of stress-related hair steroid hormones are associated with the increased SCORE2 risk prediction algorithm in apparently healthy women // Journal of cardiovascular development and disease. Basel : MDPI. eISSN 2308-3425. 2022, vol. 9, no. 3, art. no. 70, p. [1-17]. DOI: 10.3390/jcdd9030070. [DB: Scopus, Science Citation Index Expanded (Web of Science)]
4 Petraitytė, Gunda; Mikštienė, Violeta; Siavrienė, Evelina; Cimbalistienė, Loreta; Maldžienė, Živilė; Rančelis, Tautvydas; Vaitėnienė, Evelina Marija; Ambrozaitytė, Laima; Dapkūnas, Justas; Dzindzalieta, Ramūnas; Pranckevičienė, Erinija; Kučinskas, Vaidutis; Utkus, Algirdas; Preikšaitienė, Eglė. Donor splice site variant in SLC9A6 causes Christianson syndrome in a Lithuanian family: a case report // Medicina. Kaunas; Basel : LSMU ; MDPI AG. ISSN 1010-660X. eISSN 1648-9144. 2022, vol. 58, no. 3, art. no. 351, p. [1-11]. DOI: 10.3390/medicina58030351. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.600; AIF: 6.700; Q3 (2022 InCities JCR SCIE)]
5 Laukienė, Romena; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas; Tamošiūnas, Algirdas Edvardas. Diagnostic significance of FNAB miRNA expression in papillary thyroid carcinoma // Diagnostics. Basel : MDPI. eISSN 2075-4418. 2022, vol. 12, art. no. 1384, p. [1-14]. DOI: 10.3390/diagnostics12061384. [DB: Science Citation Index Expanded (Web of Science), Scopus]
6 Zabulienė, Lina; Miglinas, Marius; Braždžiūnaitė, Deimantė; Smirnova, Mariia; Songailienė, Jurgita; Bratčikovienė, Nomeda; Banys, Valdas; Mačionienė, Ernesta; Utkus, Algirdas. Neonatal thyroid stimulating hormone as indicator of Iodine status in Lithuania // Endocrine abstracts: 24th European Congress of Endocrinology, 21 - 24 May 2022, Milan, Italy. Bristol : Bioscientifica. ISSN 1470-3947. eISSN 1479-6848. 2022, vol. 81, abstract no. P649, p. [1]. DOI: 10.1530/endoabs.81.P649. [DB: MEDLINE]
7 Tamaliūnaitė, Austėja; Kulikovaitė, Gabrielė; Zabulienė, Lina; Utkus, Algirdas. Sveikatos priežiūros specialistų bendravimo įgūdžių ir mokymų šiuos įgūdžius lavinti nauda = Benefits of communication skills and communication skills training of healthcare professionals // Sveikatos mokslai. Vilnius : Sveikatos mokslai. ISSN 1392-6373. eISSN 2335-867X. 2022, t. 32, Nr. 2, p. 157-162. DOI: 10.35988/sm-hs.2022.069. [DB: Index Copernicus, Academic Search Complete, Academic OneFile]
8 Ekkert, Aleksandra; Šliachtenko, Aleksandra; Utkus, Algirdas; Jatužis, Dalius. Intracerebral hemorrhage genetics // Genes. Basel : MDPI. eISSN 2073-4425. 2022, vol. 13, iss. 7, art. no. 1250, p. [1-11]. DOI: 10.3390/genes13071250. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase]
9 Ginevičienė, Valentina; Utkus, Algirdas. Mitochondrial transcription factor a and myoglobin genes variations are associated with endurance performance in Lithuanian elite athletes // 27th annual congress of the European college of sport science, 30 august – 2 september 2022 : book of abstracts : Gatorade Sports Science Institute, 2022. ISBN 9783981841459. p. 560-561.
10 Ginevičienė, Valentina; Utkus, Algirdas. Genetic markers for soft-tissue injury risk in Lithuanian athletes // BASEM 2022 conference, 26th and 27th May 2022 at the Grand Hotel, Brighton : abstracts book. 2022, p. 142. Prieiga per internetą: <https://www.basemconference2022.co.uk/docs/AbstractBook.pdf>.
11 Stukaitė-Ruibienė, Eglė; Gudlevičienė, Živilė; Amšiejienė, Andrė; Dagytė, Evelina; Gricius, Rimantas; Grigalionienė, Kristina; Utkus, Algirdas; Ramašauskaitė, Diana. Implementation and evaluation of preimplantation genetic testing at Vilnius university hospital Santaros klinikos = Preimplantacinio genetinio tyrimo įdiegimas ir vertinimas Vilniaus universiteto ligoninėje Santaros klinikose // Acta medica Lituanica. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0138. eISSN 2029-4174. 2022, vol. 29, no. 2, p. 225-235. DOI: 10.15388/Amed.2022.29.2.9. [DB: Index Copernicus, MEDLINE]
12 Mazgelytė, Eglė; Vysocka, Agata; Narkevičius, Martynas; Burokienė, Neringa; Petrėnas, Tomas; Kaminskas, Andrius; Songailienė, Jurgita; Utkus, Algirdas; Karčiauskaitė, Dovilė. Association between hair steroid hormone levels and cardiometabolic risk factors in a group of women participating in the national CVD prevention program: A cross-sectional study // Atherosclerosis: 90th Congress of the European-Atherosclerosis-Society (EAS), Milan, Italy, May 22-25, 2022. East Park Shannon : Elsevier B.V. ISSN 0021-9150. eISSN 1879-1484. 2022, vol. 355, p. e241. DOI: 10.1016/j.atherosclerosis.2022.06.687. [DB: ScienceDirect, Science Citation Index Expanded (Web of Science)] [IF: 5.300; AIF: 5.250; Q2 (2022 InCities JCR SCIE)]
13 Žakauskienė, Urtė; Mačionienė, Ernesta; Zabulienė, Lina; Sukackienė, Diana; Linkevičiūtė-Dumčė, Aušra; Banys, Valdas; Bratčikovienė, Nomeda; Karosiene, Dovile; Šlekienė, Virginija; Kontrimas, Virginijus; Simanauskas, Kazys; Utkus, Algirdas; Braždžiūnaitė, Deimantė; Miglinė, Vilma; Makarskiene, Indre; Zurlytė, Ingrida; Rakovac, Ivo; Breda, Joao; Cappuccio, Francesco P.; Miglinas, Marius. Sodium, potassium and iodine intake in an adult population of Lithuania // Nutrents. Basel : MDPI. eISSN 2072-6643. 2022, vol. 14, no. 18, art. no. 3817, p. [1-14]. DOI: 10.3390/nu14183817. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
14 Kučinskas, Vaidutis; Preikšaitienė, Eglė; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas. Genomo persitvarkymai, esant įgimtiems centrinės nervų sistemos raidos sutrikimams: kilmė, genominiai mechanizmai, funkcinės ir klinikinės pasekmės. Darbų apžvalga = Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2022, t. 26, Nr. 1, p. 15-26. DOI: 10.15388/NS.2022.26.3. [DB: Academic Search Ultimate]
15 Siavrienė, Evelina; Maldžienė, Živilė; Mikštienė, Violeta; Petraitytė, Gunda; Rančelis, Tautvydas; Dapkūnas, Justas; Burnytė, Birutė; Benušienė, Eglė; Sasnauskienė, Aušra; Grikinienė, Jurgita; Griškevičiūtė, Eglė; Utkus, Algirdas; Preikšaitienė, Eglė. PIGN-related disease in two Lithuanian families: a report of two novel pathogenic variants, molecular and clinical characterisation // Medicina. Basel : LSMU ; MDPI. ISSN 1010-660X. eISSN 1648-9144. 2022, vol. 58, no. 11, art. no. 1526, p. [1-13]. DOI: 10.3390/medicina58111526. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 2.600; AIF: 6.700; Q3 (2022 InCities JCR SCIE)]
16 Malcorps, Matilde; Amor-Barris, Silvia; Burnytė, Birutė; Vilimienė, Ramunė; Armirola‑Ricaurte, Camila; Grigalionienė, Kristina; Morkūnienė, Aušra; Vaitkevičius, Arūnas; De Vriendt, Els; Baets, Jonathan; Scherer, Steven S.; Ambrozaitytė, Laima; Utkus, Algirdas; Jordanova, Albena; Peeters, Kristien. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling // Orphanet journal of rare diseases. London : BMC. eISSN 1750-1172. 2022, vol. 17, iss. 1, art. no. 374, p. [1-11]. DOI: 10.1186/s13023-022-02541-0. [DB: Science Citation Index Expanded (Web of Science), Scopus]
17 Mazgelytė, Eglė; Zagorskaja, Julija; Dereškevičiūtė, Edita; Petrėnas, Tomas; Kaminskas, Andrius; Songailienė, Jurgita; Utkus, Algirdas; Chomentauskas, Gintaras; Karčiauskaitė, Dovilė. Dynamics of physiological, biochemical and psychological markers during single session of virtual reality-based respiratory biofeedback relaxation // Behavioral sciences. Basel : MDPI. eISSN 2076-328X. 2022, vol. 12, no. 12, art. no. 482, p. [1-13]. DOI: 10.3390/bs12120482. [DB: Social Sciences Citation Index (Web of Science), Scopus]
18 Bumbulienė, Žana; Bužinskienė, Diana; Banuškevičienė, Greta; Šidlovska, Evelina; Preikšaitienė, Eglė; Utkus, Algirdas. Challenges in the diagnosis of XY differences of sexual development // Medicina. Basel : MDPI. ISSN 1010-660X. eISSN 1648-9144. 2022, vol. 58, iss. 12, art. no. 1736, p. [1-8]. DOI: 10.3390/medicina58121736. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 2.600; AIF: 6.700; Q3 (2022 InCities JCR SCIE)]
19 Tumienė, Birutė; Peters, Harm; Melegh, Bela; Peterlin, Borut; Utkus, Algirdas; Fatkulina, Natalja; Pfliegler, György; Graessner, Holm; Hermanns, Sanja; Scarpa, Maurizio; Blay, Jean-Yves; Ashton, Sharon; McKay, Lucy; Baynam, Gareth. Rare disease education in Europe and beyond: time to act // Orphanet journal of rare diseases. London : BMC. eISSN 1750-1172. 2022, vol. 17, art. no. 441, p. [1-20]. DOI: 10.1186/s13023-022-02527-y. [DB: Science Citation Index Expanded (Web of Science), Scopus]
20 Aleksiūnienė, Beata; Krasovskaja, Natalija; Benušienė, Eglė; Baronas, Karolis; Grigalionienė, Kristina; Meškienė, Raimonda; Utkus, Algirdas; Matulevičienė, Aušra. Familial cases with GPC3 mutations from Lithuanian cohort with overgrowth syndromes // EuroDysmorpho 2022: 32th European meeting on dysmorphology, September 14-17, 2022, Barcelona, Spain: abstract book : ERN-ITHACA. 2022, p. 34-35. Prieiga per internetą: <https://ern-ithaca.eu/wp-content/uploads/2022/09/ABSTRACT-BOOK-V4.pdf>.
21 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Utkus, Algirdas. Novel SMARCA4 mutation identified in a patient with a mild phenotype of Coffin-Siris syndrome // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P11.116.B, p. 364. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
22 Braždžiūnaitė, Deimantė; Miglinas, Marius; Utkus, Algirdas. Next generation sequencing in the diagnostic approach to autosomal dominant polycystic kidney disease // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, p. 150-151. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
23 Ginevičienė, Valentina; Venckutė, Kamilė; Utkus, Algirdas. The COL1A1 gene variants and sports-related musculoskeletal soft-tissue injuries in Lithuanian athletes // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P24.001.D, p. 584. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
24 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Žukauskaitė, Gabrielė; Utkus, Algirdas. Challenge in prenatal diagnostics of severe skeletal dysplasias: a case of Achondrogenesis type 2 // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P01.003.C, p. 89. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
25 Šiaurytė, Kamilė; Grigalionienė, Kristina; Utkus, Algirdas; Matulevičienė, Aušra. Novel variant in DDX3X causes syndromic DDX3X related neurodevelopmental disorder // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P08.018.D, p. 234-235. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]

2021
1 Pranckevičienė, Erinija; Ginevičienė, Valentina; Jakaitienė, Audronė; Januška, Laimonas; Utkus, Algirdas. Total genotype score modelling of polygenic endurance-power profiles in Lithuanian elite athletes // Genes. Basel : MDPI. eISSN 2073-4425. 2021, vol. 12, iss. 7, art. no. 1067, p. [1-18]. DOI: 10.3390/genes12071067. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed, MEDLINE, Embase]
2 Tumienė, Birutė (tyrėjas); Utkus, Algirdas (tyrėjas). Sub-genic intolerance, ClinVar, and the epilepsies: a whole-exome sequencing study of 29,165 individuals // American journal of human genetics. Cambridge, MA : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2021, vol. 108, no. 6, p. 965-982. DOI: 10.1016/j.ajhg.2021.04.009. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 11.043; AIF: 4.682; Q1 (2021 InCities JCR SCIE)]
3 Bileišienė, Neringa; Barysienė, Jūratė; Mikštienė, Violeta; Preikšaitienė, Eglė; Marinskis, Germanas; Keževičiūtė, Monika; Utkus, Algirdas; Aidietis, Audrius. Aborted cardiac arrest in LQT2 related to novel KCNH2 (hERG) variant identified in one Lithuanian family // Medicina. Kaunas; Basel : LSMU, MDPI AG. ISSN 1010-660X. eISSN 1648-9144. 2021, vol. 57, no. 7, art. no. 721, p. [1-9]. DOI: 10.3390/medicina57070721. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.948; AIF: 8.301; Q3 (2021 InCities JCR SCIE)]
4 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Žukauskaitė, Gabrielė; Utkus, Algirdas. Challenge in prenatal diagnostics of severe skeletal dysplasias: a case of Achondrogenesis type 2 // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, poster no. P01.003.C / C, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/280>.
5 Bush, Andrew; Lintowska, Agnieszka; Mazur, Artur; Hadjipanayis, Adamos A.; Grossman, Zachi; del Torso, Stefano; Michaud, Pierre; Doan, Svitlana; Romankevych, Ivanna; Slaats, Monique; Utkus, Algirdas; Dembiński, Łukasz; Slobodanac, Marija; Valiulis, Arūnas. E-cigarettes as a growing threat for children and adolescents: position statement from the European Academy of Paediatrics // Frontiers in pediatrics. Lausanne : Frontiers media SA. ISSN 2296-2360. 2021, vol. 9, art. no. 698613, p. [1-7]. DOI: 10.3389/fped.2021.698613. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 3.569; AIF: 3.428; Q2 (2021 InCities JCR SCIE)]
6 Šiaurytė, Kamilė; Grigalionienė, Kristina; Utkus, Algirdas; Matulevičienė, Aušra. Novel variant in DDX3X causes syndromic DDX3X related neurodevelopmental disorder // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [ 1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/753>.
7 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Utkus, Algirdas. Novel SMARCA4 mutation identified in a patient with a mild phenotype of Coffin-Siris syndrome // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/1139>.
8 Braždžiūnaitė, Deimantė; Miglinas, Marius; Utkus, Algirdas. Next generation sequencing in the diagnostic approach to autosomal dominant polycystic kidney disease // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/488>.
9 Ginevičienė, Valentina; Venckutė, Kamilė; Utkus, Algirdas. The COL1A1 gene variants and sports-related musculoskeletal soft-tissue injuries in Lithuanian athletes // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [1-1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/1857>.
10 Ginevičienė, Valentina; Jakaitienė, Audronė; Utkus, Algirdas; Hall, Elliott C. R.; Semenova, Ekaterina A.; Andryushchenko, Liliya B.; Larin, Andrey K.; Moreland, Ethan; Generozov, Edward V.; Ahmetov, Ildus I. CKM gene rs8111989 polymorphism and power athlete status // Genes. Basel : MDPI. eISSN 2073-4425. 2021, vol. 12, iss. 10, art. no. 1499, p. [1-8]. DOI: 10.3390/genes12101499. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase, PubMed]
11 Strumila, Robertas; Lengvenytė, Aistė; Ambrozaitytė, Laima; Balkelienė, Danutė; Utkus, Algirdas; Dlugauskas, Edgaras. CYP2C19 polymorphisms are associated with severity of depression at initial evaluation and after the treatment independently of the prescribed medications: 4 weeks prospective study // Psychiatric genetics : Wolters Kluwer Health. ISSN 0955-8829. 2021, vol. 31, no. 5, p. 177-185. DOI: 10.1097/YPG.0000000000000287. [DB: Science Citation Index Expanded (Web of Science), Scopus, PsycInfo, MEDLINE] [IF: 2.574; AIF: 4.958; Q3 (2021 InCities JCR SCIE)]
12 Mažeikienė, Asta; Bekešienė, Svajonė; Karčiauskaitė, Dovilė; Mazgelytė, Eglė; Larsson, Gerry; Petrėnas, Tomas; Kaminskas, Andrius; Songailienė, Jurgita; Utkus, Algirdas; Vaičaitienė, Ramutė; Smaliukienė, Rasa. The association between endogenous hair steroid hormones and social environmental factors in a group of conscripts during basic military training // International journal of environmental research and public health. Basel : MDPI. eISSN 1660-4601. 2021, vol. 18, no. 22, art. no.12239, p. [1-18]. DOI: 10.3390/ijerph182212239. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
13 Bortkevič, Agnesa; Ginevičienė, Valentina; Utkus, Algirdas. TFAM genetinių variantų reikšmė aukšto meistriškumo sportininkų fiziniam pajėgumui: sisteminė literatūros apžvalga = The TFAM gene polymorphisms association with elite athletes status: a systematic literature review // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2021, t. 23, Nr. 2(88), p. 109-113. [DB: Index Copernicus]
14 Ginevičienė, Valentina; Utkus, Algirdas. The impact of COL3A1, ACE and MB genetic variants on athletic performance and injury // Medicina dello sport: vol. 74, no. 1:36th world congress of sports medicine, Athens, 23-26 September 2021. Torino : Edizioni Minerva Medica. ISSN 0025-7826. eISSN 1827-1863. 2021, vol. 74, no. 1, p. 65. [IF: 0.722; AIF: 6.109; Q4 (2021 InCities JCR SCIE)]
15 Ginevičienė, Valentina; Utkus, Algirdas; Aksenov, M.; Andruschenko, L. ACE and ACTN3 genetic variants in European elite strength and power athletes // Medicina dello sport: vol. 74, no. 1: 36th world congress of sports medicine, Athens, 23-26 September 2021. Torino : Edizioni Minerva Medica. ISSN 0025-7826. eISSN 1827-1863. 2021, vol. 74, no. 1, p. 65-66. [IF: 0.722; AIF: 6.109; Q4 (2021 InCities JCR SCIE)]
16 Mažeikienė, Asta; Karčiauskaitė, Dovilė; Mazgelytė, Eglė; Petrėnas, Tomas; Kaminskas, Andrius; Songailienė, Jurgita; Utkus, Algirdas. Reference values for scalp hair cortisol, cortisone, DHEA, and testosterone by ultra-high performance liquid chromatography-tandem mass spectrometry in healthy young man cohort // Clinical chemistry and laboratory medicine. Berlin : Walter de Gruyter GmbH. ISSN 1434-6621. eISSN 1437-4331. 2021, vol. 59, suppl. 1, p. S754. DOI: 10.1515/cclm-2021-5034. [IF: 8.490; AIF: 3.998; Q1 (2021 InCities JCR SCIE)]
17 Siavrienė, Evelina; Petraitytė, Gunda; Burnytė, Birutė; Morkūnienė, Aušra; Mikštienė, Violeta; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report // BMC musculoskeletal disorders. London : BMC. eISSN 1471-2474. 2021, vol. 22, iss. 1, art. no. 1020, p. [1-8]. DOI: 10.1186/s12891-021-04920-3. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed]
18 Mazgelytė, Eglė; Rekienė, Virginija; Dereškevičiūtė, Edita; Petrėnas, Tomas; Songailienė, Jurgita; Utkus, Algirdas; Chomentauskas, Gintaras; Karčiauskaitė, Dovilė. Effects of virtual reality-based relaxation techniques on psychological, physiological, and biochemical stress indicators // Healthcare. Basel : MDPI. eISSN 2227-9032. 2021, vol. 9, art. no. 1729, p. [1-14]. DOI: 10.3390/healthcare9121729. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
19 Grigaitė, Julija; Šiaurytė, Kamilė; Audronytė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Pranckevičienė, Erinija; Ekkert, Aleksandra; Utkus, Algirdas; Jatužis, Dalius. Novel in-frame deletion in HTRA1 gene, responsible for stroke at a young age and dementia - a case study // Genes: Gene expression and chromatin modification in the brain. Basel : MDPI. eISSN 2073-4425. 2021, vol. 12, iss. 12, art. no. 1955, p. [1-7]. DOI: 10.3390/genes12121955. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed, Embase]
20 Mazgelytė, Eglė; Vysocka, Agata; Narkevičius, Martynas; Burokienė, Neringa; Petrėnas, Tomas; Kaminskas, Andrius; Songailienė, Jurgita; Utkus, Algirdas; Karčiauskaitė, Dovilė. Association of hair steroid hormone levels with habitual sleep quality in middle-aged and older women // Psychoneuroendocrinology: vol. 131, suppl.: ISPNE 2021 Annual Meeting Abstracts. Oxford : Pergamon-Elsevier science. ISSN 0306-4530. eISSN 1873-3360. 2021, vol. 131, suppl. p. s12. DOI: 10.1016/j.psyneuen.2021.105495. [DB: Social Sciences Citation Index (Web of Science), Scopus] [IF: 4.693; AIF: 5.687; Q2 (2021 InCities JCR SCIE)]
21 Zabulienė, Lina; Miglinas, Marius; Mačionienė, Ernesta; Banys, Valdas; Bratčikovienė, Nomeda; Petronytė, Dovilė; Linkevičiūtė, Aušrinė; Urbonas, Mykolas; Makarskienė, Indrė; Utkus, Algirdas. Vilniaus miesto 6–12 m. vaikų jodo suvartojimo tyrimas = Iodine consumption in Vilnius children aged 6–12 years // Visuomenės sveikata. Vilnius : Higienos institutas. ISSN 1392-2696. 2021, Nr. 3(94), p. 43-50. Prieiga per internetą: <https://www.hi.lt/uploads/pdf/visuomenes%20sveikata/2021.3(94)/VS%202021%203(94)%20ORIG%20Jodo%20suvartojimas.pdf>. [DB: Index Copernicus]
22 Navardauskaitė, Rūta; Banevičiūtė, Kornelija; Songailienė, Jurgita; Grigalionienė, Kristina; Čereškevičius, Darius; Šukys, Marius; Mockevičienė, Giedrė; Smirnova, Marija; Utkus, Algirdas; Verkauskienė, Rasa. Impact of newborn screening on clinical presentation of congenital adrenal hyperplasia // Medicina. Kaunas; Basel : LSMU ; MDPI. ISSN 1010-660X. eISSN 1648-9144. 2021, vol. 57, no. 10, art. no. 1035, p. [1-16]. DOI: 10.3390/medicina57101035. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.948; AIF: 8.301; Q3 (2021 InCities JCR SCIE)]
23 Laukienė, Romena; Jakubkevičius, Valentinas; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas. Dysregulation of microRNAs as the risk factor of lymph node metastasis in papillary thyroid carcinoma: Systematic review // Endokrynologia Polska. Gdansk : Via Medica. ISSN 0423-104X. eISSN 2299-8306. 2021, vol. 72, no. 2, p. 145-152. DOI: 10.5603/EP.A2021.0010. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 1.569; AIF: 5.717; Q4 (2021 InCities JCR SCIE)]
24 Zabulienė, Lina; Miglinas, Marius; Mačionienė, Ernesta; Banys, Valdas; Bratčikovienė, Nomeda; Linkevičiūtė, Aušra; Petronytė, Dovilė; Urbonas, Mykolas; Utkus, Algirdas. Iodine excretion in schoolchildren of Vilnius // Endocrine abstracts: European Congress of Endocrinology, 22 - 26 May 2021, online. Bristol : Bioscientifica. ISSN 1470-3947. eISSN 1479-6848. 2021, vol. 73, abstract. no. AEP661, p. [1]. DOI: 10.1530/endoabs.73.AEP661. [DB: MEDLINE]
25 Navardauskaitė, Rūta; Banevičiūtė, Kornelija; Mockevičienė, Giedrė; Songailienė, Jurgita; Grigalionienė, Kristina; Smirnova, Marija; Utkus, Algirdas; Verkauskienė, Rasa. The evaluation of accuracy and effectiveness of newborn screening for congenital adrenal hyperplasia in Lithuania // Hormone research in paediatrics. Basel : Karger. ISSN 1663-2818. eISSN 1663-2826. 2021, vol. 94, suppl. 1, p. 151-152. DOI: 10.1159/000518849. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.275; AIF: 4.572; Q1 (2021 InCities JCR SCIE)]
26 Mazgelytė, Eglė; Chomentauskas, Gintaras; Dereškevičiūtė, Edita; Rekienė, Virginija; Jakaitienė, Audronė; Petrėnas, Tomas; Songailienė, Jurgita; Utkus, Algirdas; Kučinskienė, Zita Aušrelė; Karčiauskaitė, Dovilė. Association of salivary steroid hormones and their ratios with time-domain heart rate variability indices in healthy individuals // Journal of medical biochemistry. Belgrade : Society of Medical Biochemists of Serbia. ISSN 1452-8258. eISSN 1452-8266. 2021, vol. 40, no. 2, p. 173-180. DOI: 10.5937/jomb0-26045. [DB: Embase, Academic Search Premier, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.157; AIF: 6.490; Q4 (2021 InCities JCR SCIE)]
27 Bikulčienė, Inga; Garjonytė, Neda; Žėkas, Vytautas; Matuzevičienė, Rėda; Žymantienė, Živilė; Baublytė, Aldona; Hendrixson, Vaiva; Karčiauskaitė, Dovilė; Utkus, Algirdas; Kaminskas, Arvydas. Relationship between composition of fatty acid in platelet phospholipid membrane and markers of oxidative stress in healthy men and men after a myocardial infarction // Medical science monitor basic research. Melville : International Scientific Information, Inc. ISSN 2325-4416. eISSN 2325-4394. 2021, vol. 27, art. no. e929634, p. [1-12]. DOI: 10.12659/MSMBR.929634. [DB: Emerging Sources Citation Index (Web of Science), Scopus, MEDLINE]
28 Butėnaitė, Adelė; Strumila, Robertas; Lengvenytė, Aistė; Pakutkaitė, Indrė Kotryna; Morkūnienė, Aušra; Matulevičienė, Aušra; Dlugauskas, Edgaras; Utkus, Algirdas. Significant association between huntingtin gene mutation and prevalence of hopelessness, depression and anxiety symptoms = Ar yra hantingtino geno mutacijos ir dažnesnio depresijos, nevilties ir nerimo simptomų raiškos ryšys? // Acta medica Lituanica. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0138. eISSN 2029-4174. 2021, vol. 28, no. 1, p. 43-51. DOI: 10.15388/Amed.2020.28.1.4. [DB: Index Copernicus, MEDLINE]
29 Petraitytė, Gunda; Šiaurytė, Kamilė; Mikštienė, Violeta; Cimbalistienė, Loreta; Kriaučiūnienė, Dovilė; Matulevičienė, Aušra; Utkus, Algirdas; Preikšaitienė, Eglė. A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report // BMC endocrine disorders. London : BMC. eISSN 1472-6823. 2021, vol. 21, art. no. 71, p. [1-6]. DOI: 10.1186/s12902-021-00741-6. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase, PubMed Central, ProQuest Central, Dimensions]
30 Bortkevič, Agnesa; Ginevičienė, Valentina; Utkus, Algirdas. PPARA, PPARD ir PPARG genetinių variantų reikšmė aukšto meistriškumo sportininkų fiziniam pajėgumui: sisteminė literatūros apžvalga = Impact of PPARA, PPARD and PPARG genetic variants on elite athletic performance: a systematic literature review // Sporto mokslas. Kaunas : Vytauto Didžiojo universitetas. ISSN 1392-1401. eISSN 2424-3949. 2021, Nr. 1(99), p. 53-62. DOI: 10.15823/sm.2021.99.7. [DB: Index Copernicus]
31 Ginevičienė, Valentina; Jakaitienė, Audronė; Pranckevičienė, Erinija; Milašius, Kazys; Utkus, Algirdas. Variants in the myostatin gene and physical performance phenotype of elite athletes // Genes. Basel : MDPI AG. eISSN 2073-4425. 2021, vol. 12, no. 5, art. no. 757, p. [1-10]. DOI: 10.3390/genes12050757. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]

2020
1 Aleksiūnienė, Beata; Tumienė, Birutė; Strupaitė-Šileikienė, Rasa; Utkus, Algirdas. Congenital bilateral iris coloboma in a patient with 16q23.1q23.2 deletion // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. E-P02.04, p. 807. DOI: 10.1038/s41431-020-00741-5. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
2 Burnytė, Birutė; Morkūnienė, Aušra; Grigalionienė, Kristina; Ambrozaitytė, Laima; Bunevičiūtė, Ramunė; Vaitkevičius, Arūnas; Preikšaitienė, Eglė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Novel HINT1 variant identified in Lithuanian patients with autosomal recessive axonal neuropathy with neuromyotonia // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.45.A, p. 440-441. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
3 Ginevičienė, Valentina; Utkus, Algirdas; Andruschenko, L.; Aksenov, M. Association of PPARGC1A gene polymorphism with strength&power athlete status in two cohorts of European elite athletes // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P19.077.C, p. 727. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
4 Grigalionienė, Kristina; Burnytė, Birutė; Vansevičiūtė, Danutė; Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Utkus, Algirdas. Molecular mitochondrial DNA analysis in patients with suspected mitochondrial disorder // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P06.32.A, p. 295-296. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
5 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Grigalionienė, Kristina; Ambrozaitytė, Laima; Utkus, Algirdas. Simpson-Golabi-Behmel syndrome familial case series with an emphasis on prenatal diagnosis // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P01.111.C, p. 176. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
6 Petraitytė, Gunda; Siavrienė, Evelina; Mikštienė, Violeta; Norvilas, R.; Burnytė, Birutė; Utkus, Algirdas; Preikšaitienė, Eglė. Analysis of the effect of a novel splice site variant in TGFBR2 on mRNA level // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. E-P08.40, p. 874. DOI: 10.1038/s41431-020-00741-5. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
7 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.38.C, p. 437-438. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
8 Vaitėnienė, Evelina Marija; Cimbalistienė, Loreta; Žukauskaitė, Gabrielė; Utkus, Algirdas. Novel variant in the EZH2 gene causing Weaver syndrome // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. E-P04.55, p. 842-843. DOI: 10.1038/s41431-020-00741-5. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
9 Lengvenytė, Aistė; Strumila, Robertas; Utkus, Algirdas; Dlugauskas, Edgaras. CYP2C19 Genotype-predicted activity and depression diagnosis, its severity and response to treatment // Biological psychiatry: 75th Annual Scientific Convention and Meeting of the Society-of-Biological-Psychiatry (SOBP), New York, NY, April 30-May 02, 2020. New York : Elsevier. ISSN 0006-3223. eISSN 1873-2402. 2020, vol. 87, iss. 9, suppl. p. [S258-S259]. DOI: 10.1016/j.biopsych.2020.02.668. [DB: Science Citation Index Expanded (Web of Science)] [IF: 13.382; AIF: 4.686; Q1 (2020 InCities JCR SCIE)]
10 Cuenca, Marc Vila; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W; Piubelli, Chiara; Borges, Marina Dorigatti; de Albuquerque, Dulcinéia Martins; Yotsumoto Fertrin, Kleber; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnytė, Birutė; Utkus, Algirdas; Busti, Fabiana; Kaubrys, Gintaras Ferdinandas; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B.; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; Girelli, Domenico; Sanchez, Mayka. Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis // International journal of molecular sciences. Basel : MDPI. ISSN 1661-6596. eISSN 1422-0067. 2020, vol. 21, no. 7, art. no. 2374, p. [1-14]. DOI: 10.3390/ijms21072374. [DB: MEDLINE, Scopus, Social Sciences Citation Index (Web of Science), Science Citation Index Expanded (Web of Science)]
11 Byčkova, Jekaterina; Mikštienė, Violeta; Kiverytė, Silvija; Mickevičienė, Vaiva; Gromova, Margarita; Černytė, Gabrielė; Mataitytė-Diržienė, Jurga; Stumbrys, Daumantas; Utkus, Algirdas; Lesinskas, Eugenijus. Etiological profile of hearing loss amongst Lithuanian pediatric cochlearimplant users // International journal of pediatric otorhinolaryngology. East Park Shannon : Elsevier Ireland LTD. ISSN 0165-5876. eISSN 1872-8464. 2020, vol. 134, art. no. 110043, p. [1-5]. DOI: 10.1016/j.ijporl.2020.110043. [DB: Current Contents, MEDLINE, Scopus, Social Sciences Citation Index (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 1.675; AIF: 2.615; Q3 (2020 InCities JCR SCIE)]
12 Maldžienė, Živilė; Vaitėnienė, Evelina Marija; Aleksiūnienė, Beata; Utkus, Algirdas; Preikšaitienė, Eglė. A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability // BMC medical genomics. London : BioMed Central Ltd. eISSN 1755-8794. 2020, vol. 13, iss. 1, art. no. 63, p. [1-6]. DOI: 10.1186/s12920-020-0711-4. [DB: Embase, Biological Abstracts, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)]
13 Painous, C.; H. van Os, N. J.; Delamarre, A.; Michailovienė, Ieva; Marti, M. J.; van de Warrenburg, B. P.; Meissner, W. G.; Utkus, Algirdas; Reinhard, C.; Tijssen, Maj. Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases // European journal of neurology. Hoboken : Wiley. ISSN 1351-5101. eISSN 1468-1331. 2020, vol. 27, iss. 8, p. 1493-1500. DOI: 10.1111/ene.14302. [DB: Biological Abstracts, Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 6.089; AIF: 4.552; Q1 (2020 InCities JCR SCIE)]
14 Lesinskienė, Sigita; Rojaka, Darja; Praninskienė, Rūta; Morkūnienė, Aušra; Matulevičienė, Aušra; Utkus, Algirdas. Juvenile Huntington’s disease: two case reports and a review of the literature // Journal of medical case reports. London : BioMed Central Ltd. ISSN 1752-1947. 2020, vol. 14, art. no. 173, p. [1-5]. DOI: 10.1186/s13256-020-02494-7. [DB: Scopus, Academic Search Premier, MEDLINE, Embase]
15 Aleksiūnienė, Beata; Tumienė, Birutė; Strupaitė-Šileikienė, Rasa; Utkus, Algirdas. Congenital bilateral iris coloboma in a patient with 16q23.1q23.2 deletion // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. E-P02.04, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/2355>.
16 Vaitėnienė, Evelina Marija; Cimbalistienė, Loreta; Žukauskaitė, Gabrielė; Utkus, Algirdas. Novel variant in the EZH2 gene causing Weaver syndrome // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. E-P04.55, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/2461>.
17 Petraitytė, Gunda; Siavrienė, Evelina; Mikštienė, Violeta; Norvilas, R.; Burnytė, Birutė; Utkus, Algirdas; Preikšaitienė, Eglė. Analysis of the effect of a novel splice site variant in TGFBR2 on mRNA level // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. E-P08.40, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/2585>.
18 Grigalionienė, Kristina; Burnytė, Birutė; Vansevičiūtė, Danutė; Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Utkus, Algirdas. Molecular mitochondrial DNA analysis in patients with suspected mitochondrial disorder // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P06.32.A, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/789>.
19 Ginevičienė, Valentina; Utkus, Algirdas; Andruschenko, L.; Aksenov, M. Association of PPARGC1A gene polymorphism with strength&power athlete status in two cohorts of European elite athletes // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P19.077.C, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/2083> [žiūrėta 2020-10-20].
20 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Grigalionienė, Kristina; Ambrozaitytė, Laima; Utkus, Algirdas. Simpson-Golabi-Behmel syndrome familial case series with an emphasis on prenatal diagnosis // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P01.111.C, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/425> [žiūrėta 2020-10-20].
21 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P10.38.C, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/1187> [žiūrėta 2020-10-20].
22 Burnytė, Birutė; Morkūnienė, Aušra; Grigalionienė, Kristina; Ambrozaitytė, Laima; Bunevičiūtė, Ramunė; Vaitkevičius, Arūnas; Preikšaitienė, Eglė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Novel HINT1 variant identified in Lithuanian patients with autosomal recessive axonal neuropathy with neuromyotonia // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P10.45.A, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/1194>.
23 Arasimavičius, Justas; Dilytė, Evelina; Utkus, Algirdas; Preikšaitienė, Eglė. A familial 4q12 deletion involving KIT gene causes piebaldism // Acta dermatovenerologica Croatica. Zagreb : Croation Dermatovenerological Society. ISSN 1330-027X. 2020, vol. 28, no. 2, p. 105-108. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.256; AIF: 3.775; Q4 (2020 InCities JCR SCIE)]
24 Utkus, Algirdas. Genetic testing – who, when and what? // Brain, heart and kidney: international congress, October 22-24, 2020, Vilnius, Lithuania : abstract book. Vilnius : Lithuanian Neurologists Association, 2020. ISBN 9786099618500. p. 50.
25 Ginevičienė, Valentina; Utkus, Algirdas. The effect of collagen (COL3A1, COL5A1, COL12A1) genes variants on physical performance phenotype in Lithuanian elite athletes // 25th annual congress of the European college of sport science, 28th - 30th October 2020 : book of abstracts / edited by Dela, F., Müller E., Tsolakidis, E. Cologne : European College of Sport Science, 2020, Abstract-ID: 486. ISBN 9783981841435. p. 396.
26 Grigalionienė, Kristina; Burnytė, Birutė; Ambrozaitytė, Laima; Balkelienė, Danutė; Utkus, Algirdas. Mitochondrijų DNR variantų įvairovė asmenų su įtariama mitochondriopatija grupėje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 13-oji jaunųjų mokslininkų konferencija, 2020 m. gruodžio 4 d.: pranešimų santraukos / Lietuvos mokslų akademijos Biologijos, medicinos ir geomokslų skyrius. Gamtos tyrimų centras ; [leidinį sudarė Jadvyga Olechnovičienė, Vaidutis Kučinskas]. Vilnius : Lietuvos mokslų akademijos leidykla, 2020. ISBN 9789986080787. p. 50. Prieiga per internetą: <http://www.lma.lt/uploads/news/id1049/LMA_BIOATEITIS_gamtos%20ir%20gyvybes%20mokslu%20perspektyvos_programa-pranesimu%20tezes-taisytos.pdf> [žiūrėta 2020-12-18].
27 Niestroj, Lisa-Marie; Perez-Palma, Eduardo; Howrigan, Daniel P.; Zhou, Yadi; Cheng, Feixiong; Saarentaus, Elmo; Nurnberg, Peter; Stevelink, Remi; Daly, Mark J.; Palotie, Aarno; Lal, Dennis; Tumienė, Birutė (tyrėjas); Mameniškienė, Rūta (tyrėjas); Utkus, Algirdas (tyrėjas); Praninskienė, Rūta (tyrėjas); Grikinienė, Jurgita (tyrėjas); Samaitienė, Rūta (tyrėjas). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects // Brain. Oxford : Oxford University Press. ISSN 0006-8950. eISSN 1460-2156. 2020, vol. 143, iss. 7, p. 2106-2118. DOI: 10.1093/brain/awaa171. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, BIOSIS Previews, Embase] [IF: 13.501; AIF: 4.552; Q1 (2020 InCities JCR SCIE)]
28 Gudlevičienė, Živilė; Baušytė, Raminta; Dagytė, Evelina; Balkelienė, Danutė; Utkus, Algirdas; Ramašauskaitė, Diana. The first live birth in Lithuania after application of preimplantation genetic testing = Pirmasis sveikas naujagimis Lietuvoje po preimplantacinio genetinio tyrimo pritaikymo // Acta medica Lituanica. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0138. eISSN 2029-4174. 2020, t. 27, Nr. 2, p. 35-42. DOI: 10.15388/Amed.2020.27.2.5. [DB: Dimensions, MEDLINE, Academic Search Complete, Scilit]
29 Petrulytė, Aistė; Ginevičienė, Valentina; Utkus, Algirdas; Milašius, Kazys. Didelio meistriškumo sportininkų CREM ir GALNT13 genetinių žymenų reikšmė anaerobiniam pajėgumui // Sporto mokslas: Mokslinės praktinės konferencijos „Ateities sporto mokslas: moksliniais įrodymais pagrįsta sporto praktika ir medicina“ tezės Vilnius, 2020 m. spalio mėn. Kaunas : Vytauto Didžiojo universiteto Švietimo akademija. ISSN 1392-1401. eISSN 2424-3949. 2020, Nr. 1(97), p. 78-79. DOI: 10.15823/sm.2020.97. [DB: Index Copernicus]
30 Aksenov, Maxim; Andruschenko, Lilia; Ginevičienė, Valentina; Utkus, Algirdas. Analysis of ACE gene variant in Lithuanian and Russian elite strength/power athletes // Sporto mokslas: Mokslinės praktinės konferencijos „Ateities sporto mokslas: moksliniais įrodymais pagrįsta sporto praktika ir medicina“ tezės Vilnius, 2020 m. spalio mėn. Kaunas : Vytauto Didžiojo universiteto Švietimo akademija. ISSN 1392-1401. eISSN 2424-3949. 2020, Nr. 1(97), p. 77. DOI: 10.15823/sm.2020.97. [DB: Index Copernicus]
31 Vaitiekaitytė, Gintarė; Ginevičienė, Valentina; Milašius, Kazys; Utkus, Algirdas. Genetic variants determining of the cardiovascular and skeletal muscle adaptation to exercise in Lithuanian elite athletes // Sporto mokslas: Mokslinės praktinės konferencijos „Ateities sporto mokslas: moksliniais įrodymais pagrįsta sporto praktika ir medicina“ tezės Vilnius, 2020 m. spalio mėn. Kaunas : Vytauto Didžiojo universiteto Švietimo akademija. ISSN 1392-1401. eISSN 2424-3949. 2020, Nr. 1(97), p. 72-73. DOI: 10.15823/sm.2020.97. [DB: Index Copernicus]
32 Valiulis, Arūnas; Bousquet, J.; Veryga, A.; Suprun, U.; Sergeenko, D.; Cebotari, S.; Borelli, D.; Pietikainen, S.; Banys, Jūras; Agache, I.; Billo, N. E.; Bush, A.; Chkhaidze, I.; Dubey, L.; Fokkens, W. J.; Grigg, J.; Haahtela, T.; Julge, K.; Katilov, O.; Khaltaev, N.; Odemyr, M.; Palkonen, S.; Savli, R.; Utkus, Algirdas; Vilc, V.; Alasevičius, Tomas; Bedbrook, A.; Bewick, M.; Chorostowska-Wynimko, J.; Danila, Edvardas; Hadjipanayis, A.; Karseladze, R.; Kvedarienė, Violeta; Lesinskas, Eugenijus; Münter, L.; Samolinski, B.; Sargsyan, S.; Šitkauskienė, Brigita; Somekh, D.; Vaidelienė, Laimutė; Valiulis, Algirdas; Hellings, P. W. Correction to: Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self-management, mHealth and air pollution in chronic respiratory diseases [(Clinical and Translational Allergy, (2019), 9, 1, (7), 10.1186/s13601-019-0242-2)] // Clinical and translational allergy. London : BioMed Central Ltd. eISSN 2045-7022. 2020, vol. 10, iss. 1, art. no. 49, p. [1-2]. DOI: 10.1186/s13601-020-00357-4. [DB: Science Citation Index Expanded (Web of Science), Scopus]

2019
1 Gasiūnienė, Monika; Zubova, Anastasija; Utkus, Algirdas; Navakauskienė, Rūta. Epigenetic and metabolic alterations in human amniotic fluid stem cells induced to cardiomyogenic differentiation by DNMT and p53 inhibitors // Journal of cellular biochemistry. Hoboken : Wiley. ISSN 0730-2312. eISSN 1097-4644. 2019, vol. 120, no 5, p. 8129-8143. DOI: 10.1002/jcb.28092. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 4.237; AIF: 5.487; Q2 (2019 InCities JCR SCIE)]
2 Dlugauskas, Edgaras; Strumila, Robertas; Lengvenytė, Aistė; Ambrozaitytė, Laima; Dagytė, Evelina; Molytė, Alma; Navickas, Alvydas; Utkus, Algirdas. Analysis of Lithuanian CYP2D6 polymorphism and its relevance to psychiatric care of the local population // Nordic journal of psychiatry. Abingdon : Taylor & Francis Ltd. ISSN 0803-9488. eISSN 1502-4725. 2019, vol. 73, iss. 1, p. 31-35. DOI: 10.1080/08039488.2018.1548648. [DB: PsycInfo, MEDLINE, Scopus, Social Sciences Citation Index (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 1.780; AIF: 3.640; Q3 (2019 InCities JCR SCIE)]
3 Valiulis, Arūnas; Bousquet, J.; Veryga, Aurelijus; Suprun, U.; Sergeenko, D.; Cebotari, S.; Borelli, D.; Pietikainen, S.; Banys, Jūras; Agache, I.; Billo, N.E.; Bush, A.; Chkhaidze, I.; Dubey, L.; Fokkens, W.J.; Grigg, J.; Haahtela, T.; Julge, K.; Katilov, O.; Khaltaev, N.; Odemyr, M.; Palkonen, S.; Savli, R.; Utkus, Algirdas; Vilc, V.; Alasevičius, Tomas; Bedbbrook, A.; Bewick, M.; Chorostowska-Wynimko, J.; Danila, Edvardas; Hadjipanayis, A.; Karseladze, R.; Kvedarienė, Violeta; Lesinskas, Eugenijus; Münter, L.; Samolinski, B.; Sargsyan, S.; Šitkauskienė, B.; Somekh, D.; Vaidelienė, L.; Valiulis, Algirdas; Hellings, P.W. Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‑management, mHealth and air pollution in chronic respiratory diseases // Clinical and translational allergy. London : BMC. ISSN 2045-7022. eISSN 2045-7022. 2019, vol. 9, art. no. 7, p. [1-10]. DOI: 10.1186/s13601-019-0242-2. [DB: PubMed Central, Embase, Science Citation Index Expanded (Web of Science), Scopus] [IF: 5.129; AIF: 4.953; Q1 (2019 InCities JCR SCIE)]
4 Gasiūnienė, Monika; Zentelytė, Aistė; Treigytė, Gražina; Baronaitė, Sandra; Savickienė, Jūratė; Utkus, Algirdas; Navakauskienė, Rūta. Epigenetic alterations in amniotic fluid mesenchymal stem cells derived from normal and fetus-affected gestations: A focus on myogenic and neural differentiations // Cell biology international. Hoboken : Wiley-Blackwell. ISSN 1065-6995. eISSN 1095-8355. 2019, vol. 43, iss. 3, p. 299-312. DOI: 10.1002/cbin.11099. [DB: MEDLINE, BIOSIS Previews, Biobase, Academic Search Complete, Academic Search Premier, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.571; AIF: 6.278; Q3 (2019 InCities JCR SCIE)]
5 Gasiūnienė, Monika; Zentelytė, Aistė; Wojtas, Bartosz; Baronaitė, Sandra; Krasovskaja, Natalija; Savickienė, Jūratė; Gielniewski, Bartlomiej; Kaminska, Bozena; Utkus, Algirdas; Navakauskienė, Rūta. DNA methyltransferases inhibitors effectively induce gene expression changes suggestive of cardiomyogenic differentiation of human amniotic fluid‐derived mesenchymal stem cells via chromatin remodeling // Journal of tissue engineering and regenerative medicine. Hoboken : Wiley. ISSN 1932-6254. eISSN 1932-7005. 2019, vol. 13, iss. 3, p. 469-481. DOI: 10.1002/term.2800. [DB: Scopus, MEDLINE, INSPEC, Embase, BIOSIS Previews, Biological Abstracts, Science Citation Index Expanded (Web of Science)] [IF: 3.078; AIF: 4.653; Q2 (2019 InCities JCR SCIE)]
6 Ginevičienė, Valentina; Norvydas, Matas; Milašius, Kazys; Utkus, Algirdas. Raumenų adaptaciją prie fizinių krūvių lemiančių CKM ir AMPD1 genetinių variantų analizė Lietuvos sportininkų grupėje = Analysis of CKM and AMPD1 genetic variations related to the muscle training adaptation in Lithuanian athletes group // Sporto mokslas. Kaunas : Vytauto Didžiojo universitetas. ISSN 1392-1401. eISSN 2424-3949. 2019, t. 95, Nr. 1, p. 53-61. DOI: 10.15823/sm.2019.95.7. [DB: Index Copernicus]
7 Venckutė, Kamilė; Ginevičienė, Valentina; Utkus, Algirdas. Investigation of COL1A1 and COL3A1 gene variants in Lithuanian endurance and sprint/power oriented athletes // Sport science for sports practice, teacher training and health promotion : 12th conference of Baltic Society of Sport Sciences : April 25–26, 2019, Vilnius, Lithuania : abstracts. Kaunas : Vytautas Magnus University, 2019. ISBN 9786094673849. p. 142-143. DOI: 10.7220/9786094673849.
8 Ginevičienė, Valentina; Pranckevičienė, Erinija; Utkus, Algirdas. Current genetic findings for strength and power athletic performance in Lithuanian cohort // Физическая культура, спорт, туризм: инновационные проекты и передовые практики : материалы международной научно-практической конференции, посвященной 90-летию основания кафедры физического воспитания. Москва : ФГБОУ ВО "РЭУ им. Г. В. Плеханова", 2019. ISBN 9785730715189. p. 632-637.
9 Siavrienė, Evelina; Petraitytė, Gunda; Mikštienė, Violeta; Rančelis, Tautvydas; Maldžienė, Živilė; Morkūnienė, Aušra; Byčkova, Jekaterina; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report // BMC Medical Genetics. London : BioMed Central Ltd. ISSN 1471-2350. 2019, vol. 20, art. no. 127, p. [1-7]. DOI: 10.1186/s12881-019-0859-y. [DB: Academic Search Premier, Academic Search Complete, Academic OneFile, BIOSIS Previews, Current Contents, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.585; AIF: 4.091; Q4 (2019 InCities JCR SCIE)]
10 Siavrienė, Evelina; Mikštienė, Violeta; Radzevičius, Darius; Maldžienė, Živilė; Rančelis, Tautvydas; Petraitytė, Gunda; Tamulytė, Giedrė; Kavaliauskienė, Ingrida; Šarkinas, Laurynas; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family // Molecular genetics & genomic medicine. Hoboken : Wiley. ISSN 2324-9269. eISSN 2324-9269. 2019, vol. 7, iss. 9, art. no. e878, p. [1-7]. DOI: 10.1002/mgg3.878. [DB: PubMed, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.995; AIF: 4.091; Q3 (2019 InCities JCR SCIE)]
11 Pranckėnienė, Laura; Bumbulienė, Žana; Dasevičius, Darius; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Novel androgen receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome // Journal of pediatric and adolescent gynecology. New York : Elsevier Science. ISSN 1083-3188. eISSN 1873-4332. 2019, vol. 32, no. 6, p. 641-644. DOI: 10.1016/j.jpag.2019.08.001. [DB: PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.753; AIF: 2.444; Q3 (2019 InCities JCR SCIE)]
12 Chmieliauskas, Sigitas; Laima, Sigitas; Fomin, Dmitrij; Jurolaic, Eleonora; Jasulaitis, Algimantas; Stasiūnienė, Jurgita; Characiejus, Dainius; Utkus, Algirdas. Homicide victims and mechanisms in Lithuania from 2004 to 2016. // Journal of forensic and legal medicine. Oxford : Elsevier science. ISSN 1752-928X. eISSN 1532-2009. 2019, vol. 65, p. 27-31. DOI: 10.1016/j.jflm.2019.04.010. [DB: MEDLINE, Embase, Scopus, Social Sciences Citation Index (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 1.302; AIF: 1.699; Q3 (2019 InCities JCR SCIE)]
13 Maldžienė, Živilė; Bulanovaitė, Elena; Aleksiūnienė, Beata; Utkus, Algirdas; Preikšaitienė, Eglė. 16p13.11-p12.3 microdeletion identified in a patient with sagittal craniosynostosis and developmental delay // Clinical dysmorphology. Philadelphia : Wolters Kluwer Health, Inc. ISSN 0962-8827. eISSN 1473-5717. 2019, vol. 28, no. 4, p. 195-197. DOI: 10.1097/MCD.0000000000000285. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.521; AIF: 4.091; Q4 (2019 InCities JCR SCIE)]
14 DeLuca, David S.; Poluziorovienė, Edita; Taminskienė, Vaida; Wrenger, Sabine; Utkus, Algirdas; Valiulis, Algirdas; Alasevičius, Tomas; Henderson, John; Bush, Andrew; Welte, Tobias; Janciauskiene, Sabina; Valiulis, Arūnas. SERPINA1 gene polymorphisms in a population-based ALSPAC cohort // Pediatric pulmonology. Hoboken : John Wiley & Sons, Inc. ISSN 8755-6863. eISSN 1099-0496. 2019, vol. 54, no. 9, p. 1474-1478. DOI: 10.1002/ppul.24422. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.534; AIF: 3.166; Q2 (2019 InCities JCR SCIE)]
15 Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Petraitytė, Gunda; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional delineation of de novo heterozygous intragenic deletion in MED13L // European human genetics conference, Gothenburg, Sweden, June 15-18, 2019. Gothenburg : European Society of Human Genetics. 2019, abstract no. P08.40A, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/7874/presentation/1881> [žiūrėta 2019-11-12].
16 Petraitytė, Gunda; Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional analysis of a novel c.899+1G>A variant in SLC9A6 gene // European human genetics conference, Gothenburg, Sweden, June 15-18, 2019. Gothenburg : European Society of Human Genetics. 2019, abstract no. P08.56A, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/7874/presentation/1897> [žiūrėta 2019-11-12].
17 Petrulionienė, Žaneta; Gargalskaitė, Urtė; Mikštienė, Violeta; Norvilas, Rimvydas; Skiauterytė, Eglė; Utkus, Algirdas. Autosomal recessive hypercholesterolemia: Case report. // Journal of clinical lipidology. New York : Elsevier Science Inc. ISSN 1933-2874. eISSN 1876-4789. 2019, vol. 13, iss. 6, p. 887-893. DOI: 10.1016/j.jacl.2019.09.009. [DB: MEDLINE, ScienceDirect, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.860; AIF: 3.442; Q1 (2019 InCities JCR SCIE)]
18 Valiulis, Arūnas; Bousquet, Jean; Veryga, Aurelijus; Suprun, Ulana; Sergeenko, Davit; Cebatori, Svetlana; Borelli, Danielle; Pietikainen, Sirpa; Banys, Jūras; Agache, Ioana; Billo, Nils E.; Bush, Andrew; Chkhaidze, Ivane; Dubey, Lokesh; Fokkens, Wytske Johanna; Grigg, Jonathan; Haahtela, Tari; Julge, Kaja; Katilov, Oleksander; Khaltaev, Nikolai; Odemyr, Mikaela; Palkonen, Susana; Savli, Roberta; Utkus, Algirdas; Vilc, Valentina; Alasevičius, Tomas; Bedbrook, Anna; Bewick, Michael; Chorostowska-Wynimko, Joanna; Danila, Edvardas; Hadjipanayis, Adamos; Karseladze, Rusudan; Kvedarienė, Violeta; Lesinskas, Eugenijus; Münter, Lars; Samolinski, Boleslaw K.; Sargsyan, Sergey; Šitkauskienė, Brigita; Somekh, David; Vaidelienė, Laimutė; Valiulis, Algirdas; Hellings, Peter W. Erklärung von Vilnius zu chronischen Atemwegserkrankungen: multisektorale Versorgungswege, die angeleitetes Selbstmanagement, mHealth und Luftverschmutzung bei der Versorgung chronischer Atemwegserkrankungen einschließen // Karger Kompass Pneumologie. Freiburg. ISSN 2296-0368. eISSN 2296-0317. 2019, vol. 7, no. 4, p. 185-192. DOI: 10.1159/000500740.
19 Ginevičienė, Valentina; Venckutė, Kamilė; Utkus, Algirdas; Milašius, Kazys. Kolageno genų variantų reikšmė Lietuvos didelio meistriškumo sportininkų fiziniam pajėgumui // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2019, t. 21, Nr. 2, p. 84-92. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/884/2019>. [DB: Index Copernicus]
20 Ginevičienė, Valentina; Milašius, Kazys; Utkus, Algirdas. Association of AMPD1 and CKMM polymorphisms with physical performance phenotype of Lithuanian elite athletes // European journal of human genetics: vol. 27, suppl. 2:Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1748-1749. DOI: 10.1038/s41431-019-0494-2. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
21 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Cimbalistienė, Loreta; Tumienė, Birutė; Preikšaitienė, Eglė; Bikauskaitė-Valčiukė, Liucija; Maldžienė, Živilė; Dagytė, Evelina; Aleksiūnienė, Beata; Matulevičienė, Aušra; Utkus, Algirdas. Wolf-Hirschhorn syndrome: clinical and genetic data analysis of Lithuanian patients // European journal of human genetics: vol. 27, suppl. 2: Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1896. DOI: 10.1038/s41431-019-0493-3. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
22 Burnytė, Birutė; Grigalionienė, Kristina; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas. Improving molecular diagnosis of Charcot-Marie-Toothdisease by targeted next-generation sequencing in a cohort of Lithuanian patients // European journal of human genetics: vol. 27, suppl. 2: abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1483. DOI: 10.1038/s41431-019-0494-2. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
23 Matulevičienė, Aušra; Burnytė, Birutė; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Matulevičiūtė, R.; Aleksiūnienė, Beata; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. Variable expressivity of the c.749 C > G mutation in the FGFR3 gene in two unrelated families of Muenke syndrome // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P04.14, p. 871-872. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
24 Aleksiūnienė, Beata; Matulevičienė, Aušra; Ambrozaitytė, Laima; Jakutis, Virginijus; Utkus, Algirdas. Hypoplastic right ventricle, dysmorphic features and brain structural anomalies in a patient with a de novo 1p36.33p36.32 deletion // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P05.16, p. 879-880. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
25 Grigalionienė, Kristina; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. MtDNA sequence analysis in the group of Lithuanian patients with clinically suspected mitochondrial disease // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters, May 27-30, 2017, Copenhagen, Denmark. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P06.32, p. 897-898. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
26 Preikšaitienė, Eglė; Laimutė, R.; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Developmental delay, congenital heart defect and cleft palate in a patient with 1q22q23.1 microdeletion // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters, May 27-30, 2017, Copenhagen, Denmark. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P08.05, p. 921-922. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
27 Blažytė, Evelina Marija; Šiaurytė, Kamilė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Aleksiūnienė, B.; Burnytė, Birutė; Preikšaitienė, Eglė; Dagytė, Evelina; Tumienė, Birutė; Mikštienė, Violeta; Benušienė, Eglė; Krasovskaja, Natalija; Cimbalistienė, Loreta; Utkus, Algirdas. Genotype-phenotype analysis in 22q11.2 deletion/duplication groups // European journal of human genetics: vol. 27, suppl. 2: abstracts from the 52nd European Society of Human Genetics (ESHG) Conference. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1869-1870. DOI: 10.1038/s41431-019-0493-3. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
28 Matulevičienė, Aušra; Šiaurytė, Kamilė; Danelienė, Eglė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated cases of oculodentodigital dysplasia in Lithuanian cohort // Thirtieth European meeting on dysmorphology, 11-13 September 2019, Le Bischenberg : general program. 2019, p. [1].
29 Strumila, Robertas; Lengvenytė, Aistė; Dlugauskas, Edgaras; Utkus, Algirdas. Do CYP2C19 polymorphisms predict treatment response to escitalopram in moderate and severe depressive disorder? // European neuropsychopharmacology: Abstracts of the 32nd ECNP Congress, 7-10 September 2019, Copenhagen, Denmark. Amsterdam : Elsevier B.V. ISSN 0924-977X. 2019, vol. 29, suppl. 6, abstract no. P.500, p. S350-S351. DOI: 10.1016/j.euroneuro.2019.09.505. [DB: Scopus, Conference Proceedings Citation Index - Science (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 3.853; AIF: 3.659; Q1 (2019 InCities JCR SCIE)]
30 Leu, Costin; Stevelink, Remi; Smith, Alexander W.; Goleva, Slavina B.; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L.; Koeleman, Bobby P.C.; Lerche, Holger; Jehi, Lara; Davis, Lea K.; Najm, Imad M.; Palotie, Aarno; Daly, Mark J.; Busch, Robyn M.; Lal, Denis; Tumienė, Birutė (tyrėjas); Mameniškienė, Rūta (tyrėjas); Utkus, Algirdas (tyrėjas); Praninskienė, Rūta (tyrėjas); Grikinienė, Jurgita (tyrėjas); Samaitienė, Rūta (tyrėjas). Polygenic burden in focal and generalized epilepsies // Brain. Oxford : Oxford university press. ISSN 0006-8950. 2019, vol. 142, no. 11, p. 3473-3481. DOI: 10.1093/brain/awz292. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 11.337; AIF: 3.777; Q1 (2019 InCities JCR SCIE)]
31 Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Petraitytė, Gunda; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional delineation of de novo heterozygous intragenic deletion in MED13L // European journal of human genetics: Conference Abstracts from the 52nd European Society of Human Genetics (ESHG), Gothenburg, Sweden, Jun 15-18, 2019. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, art. no. P08.40A, p. 1396-1397. DOI: 10.1038/s41431-019-0494-2. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
32 Petraitytė, Gunda; Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional analysis of a novel c.899+1G > A variant in SLC9A6 gene // European journal of human genetics: Conference Abstracts from the 52nd European Society of Human Genetics (ESHG), Gothenburg, Sweden, Jun 15-18, 2019. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, art. no. P08.56A, p. 1405. DOI: 10.1038/s41431-019-0494-2. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
33 Petkevičienė, Milda; Šablauskas, Karolis; Marcinkutė, Rūta; Smirnova, M.; Songailienė, Jurgita; Utkus, Algirdas. The beginning of the neonatal screening for congenital adrenal hyperplasia in Lithuania: cut-off limits based on 27175 infants // European journal of human genetics: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. P06.07C, p. 170. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7> [žiūrėta 2021-03-09]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
34 Dagytė, Evelina; Matulevičienė, Aušra; Ambrozaitytė, Laima; Laimutė, Rita; Aleksiūnienė, Beata; Burnytė, Birutė; Utkus, Algirdas. 15q13.3 microdeletion and microduplication in patients with neurodevelopment disorders // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. P08.03C, p. 210-211. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7> [žiūrėta 2021-03-09]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
35 Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Regelskytė, Vaiva; Vaitkevičius, Arūnas; Kučinskas, Vaidutis; Utkus, Algirdas. A report of a family of intermediate Charcot-Marie-Tooth disease with concomitant mutations in the GNB4 and DNM2 genes // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. P10.09A, p. 322. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7.pdf> [žiūrėta 2021-03-10]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
36 Matulevičienė, Aušra; Šiaurytė, Kamilė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated Lithuanian cases of oculodentodigital dysplasia: phenotypic analysis and comparison to the literature // European journal of human genetics: vol. 27, suppl. 1: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. P11.067C, p. 372-373. DOI: 10.1038/s41431-019-0404-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
37 Šablauskas, Karolis; Tumienė, Birutė; Utkus, Algirdas. Machine learning approach for detecting epilepsy causing proteins using protein interaction data // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. P16.25A, p. 578. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
38 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, p. 912. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
39 Blažytė, Evelina Marija; Samsonė, Viltė Gabrielė; Matulevičienė, Aušra; Aleksiūnienė, Beata; Burnytė, Birutė; Dagytė, Evelina; Tumienė, Birutė; Utkus, Algirdas. The spectrum of associated congenital malformations in Down syndrome: a retrospective Lithuanian cohort study // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P05.10, p. 920. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
40 Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Preikšaitienė, Eglė; Utkus, Algirdas. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P11.08, p. 977-978. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
41 Aleksiūnienė, Beata; Tumienė, Birutė; Utkus, Algirdas. AHDC1 gene truncating 1p36.11p35.3 microdeletion in a patient with developmental delay, dysmorphic features and congenital heart defects // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P11.09, p. 978. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
42 Ginevičienė, Valentina; Jakaitienė, Audronė; Ašmenavičiūtė, Ieva; Utkus, Algirdas; Tubelis, Linas. Investigation of MCT1 rs1049434, COL1A1 rs1800012 and COL3A1 rs1800255 variants related to susceptibility to injuries in professional football players // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P18.03, p. 1035. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]

2018
1 Tumienė, Birutė; Maver, Aleš; Peterlin, Borut; Utkus, Algirdas. Išsamus genominis pacientų, kuriems yra epilepsija ar traukulių, tyrimas klinikinėje praktikoje. // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 21-25. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/697/2018>. [DB: Index Copernicus]
2 Burnytė, Birutė; Ambrozaitytė, Laima; Sereikė, Ieva; Maculevičienė, Inga; Morkūnienė, Aušra; Kučinskas, Vaidutis; Utkus, Algirdas. MFN2 aksonopatija: klinikinis atvejis // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, t. 20, Nr. 1, p. 41-45. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/704/2018>. [DB: Index Copernicus]
3 Tumienė, Birutė; Jurevičienė, Elena; Utkus, Algirdas; Burokienė, Sigita; Čerkauskienė, Rimantė. Paslaugų retomis ligomis sergantiems pacientams organizavimas ir koordinavimas Vilniaus universiteto ligoninėje Santaros klinikose // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 3-7.
4 Ambrozaitytė, Laima; Grigalionienė, Kristina; Domarkienė, Ingrida; Gudlevičienė, Živilė; Utkus, Algirdas. Preimplantation genetic diagnostics - Lithuanian status // Laboratorinė medicina. Vilnius : Lietuvos laboratorinës medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1(77), p. 113. [DB: Index Copernicus]
5 Braždžiūnaitė, Deimantė; Cimbalistienė, Loreta; Ambrozaitytė, Laima; Utkus, Algirdas. Early puberty in Xp11.22p23 microduplication syndrome // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1(77), p. 115.
6 Ambrozaitytė, Laima; Benušienė, Eglė; Krasovskaja, Natalija; Bakšienė, Marija; Butkevičienė, Eglė; Aleksiūnienė, Beata; Dagytė, Evelina; Grigalionienė, Kristina; Laimutė, Rita; Meškienė, Raimonda; Mikštienė, Violeta; Morkūnienė, Aušra; Šliužas, Vytautas; Kučinskas, Vaidutis; Utkus, Algirdas. The complexity of genetic diagnostics of prenatal cases // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S18. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
7 Aleksiūnienė, Beata; Ambrozaitytė, Laima; Dagytė, Evelina; Laimutė, Rita; Molytė, Alma; Utkus, Algirdas. Identification of rare copy number variants in patients with congenital heart diseases // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S18. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
8 Burnytė, Birutė; Ambrozaitytė, Laima; Morkūnienė, Aušra; Baronas, Karolis; Kavaliauskienė, Ingrida; Kučinskas, Vaidutis; Utkus, Algirdas. Genetic diagnostic utility in a cohort of patients with hereditary neuropathy // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S20. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
9 Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Baronas, Karolis; Kavaliauskienė, Ingrida; Sereikė, Ieva; Kučinskas, Vaidutis; Utkus, Algirdas. The MFN2 gene is rarely mutated in Lithuanian patients with Charcot–Marie–Tooth disease // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. supl. p. S21. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
10 Ginevičienė, Valentina; Jakaitienė, Audronė; Ašmenavičiūtė, Ieva; Utkus, Algirdas. Prevalence of risk alleles in collagen-encoding genes variants in Lithuanian football players // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S22. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
11 Grigalionienė, Kristina; Burnytė, Birutė; Žukauskaitė, Gabrielė; Vansevičiūtė, Danutė; Utkus, Algirdas. Comprehensive analysis of mitochondrial DNA in patients with suspected mitochondrial disorder // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S23. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
12 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. Genomics of congenital / hereditary hearing loss: Influence to pathogenesis and phenotypic manifestation in the Lithuanian population // Laboratorinë medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S31. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
13 Baronas, Karolis; Dagytė, Evelina; Dlugauskas, Edgaras; Ambrozaitytė, Laima; Utkus, Algirdas. Clinical applications of pharmacogenetic testing // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 114. [DB: Index Copernicus]
14 Braždžiūnaitė, Deimantė; Laimutė, Rita; Aleksiūnienė, Beata; Dagytė, Evelina; Ambrozaitytė, Laima; Benušienė, Eglė; Cimbalistienė, Loreta; Utkus, Algirdas. Molecular karyotyping: clinical utility and practice // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 115. [DB: Index Copernicus]
15 Strupaitė, Rasa; Ambrozaitytė, Laima; Meškienė, Raimonda; Cimbalistienė, Loreta; Strupaitė-Šakalienė, Ieva; Utkus, Algirdas. Overview of the Lithuanian retinitis pigmentosa group // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 117.
16 Šiaurytė, Kamilė; Matulevičienė, Aušra; Utkus, Algirdas. Dysmorphology today // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 118.
17 Pelnena, Dita; Burnytė, Birutė; Jankevics, Eriks; Lace, Baiba; Dagytė, Evelina; Grigalionienė, Kristina; Utkus, Algirdas; Krumina, Zita; Rozentale, Jolanta; Adomaitienė, Irina; Stavusis, Janis; Pliss, Liana; Inashkina, Inna. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome // Mitochondrial DNA. Part A. Abingdon : Taylor and Francis Ltd. ISSN 2470-1394. eISSN 2470-1408. 2018, vol. 29, no 7, p. 1115-1120. DOI: 10.1080/24701394.2017.1413365. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 0.566; AIF: 3.940; Q4 (2018 InCities JCR SCIE)]
18 Gasiūnienė, Monika; Petkus, Gintautas; Krasovskaja, Natalija; Utkus, Algirdas; Navakauskienė, Rūta. Investigation of TGF-β1 and Angiotensin II as potential cardiomyogenic differentiation inducers of human amniotic fluid mesenchymal stem cells // 15th International conference of the Lithuanian Biochemical Society, Dubingiai, June 26-29, 2018 : programme and abstract book. [Vilnius] : Lietuvos biochemikų draugija, 2018. ISBN 9786099603001. p. 63-64. Prieiga per internetą: <http://www.biochemistry.lt/xv-lbd-konferencija/pranesimu-santraukos/> [žiūrėta 2018-08-03].
19 Aleksiūnienė, Beata; Preikšaitienė, Eglė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas. A de novo 1q22q23.1 interstitial microdeletion in a girl with intellectual disability and multiple congenital anomalies including congenital heart defect // Cytogenetic and genome research. Basel : Karger Publishers. ISSN 1424-8581. eISSN 1424-859X. 2018, vol. 154, no 1, p. 1-6. DOI: 10.1159/000486947. [IF: 1.423; AIF: 4.963; Q4 (2018 InCities JCR SCIE)]
20 Dlugauskas, Edgaras; Lengvenytė, Aistė; Strumila, Robertas; Utkus, Algirdas. Lithuanian CYP2D6 polymorphism analysis (pilot study). // Psychiatry - shaping the future : 32nd Nordic congress of psychiatry, June 13-16, 2018, Reykjavik. Reykjavik : NCP. 2018, [p. 1]. Prieiga per internetą: <https://www.eventure-online.com/eventure/admin/showFrontPublic.form?cuuid=98879116-2550-4ee8-9b47-f0b6b9adc423> [žiūrėta 2018-07-04].
21 Gasiūnienė, Monika; Petkus, Gintautas; Krasovskaja, Natalija; Utkus, Algirdas; Navakauskienė, Rūta. Assessement of the efficacy of TGF-β1 and Angiotensin II to induce cardiomyogenic differentiation of human amniotic fluid-derived mesenchymal stem cells // FEBS Open Bio: 43rd FEBS Congress, Biochemistry Forever, Prague, Czech Republic, July 7‐12, 2018. Hoboken : Wiley. ISSN 2211-5463. 2018, vol. 8, Suppl. S1, abstract no. ShT.37-2, p. 59-60. DOI: 10.1002/2211-5463.12449. [DB: Conference Proceedings Citation Index - Science (Web of Science)] [IF: 1.959; AIF: 4.417; Q4 (2018 InCities JCR SCIE)]
22 Tumienė, Birutė; Peterlin, Borut; Maver, Aleš; Utkus, Algirdas. Contemporary scope of inborn errors of metabolism involving epilepsy or seizures // Metabolic brain disease. New York : Springer/Plenum Publishers. ISSN 0885-7490. eISSN 1573-7365. 2018, vol. 33, iss. 6, p. 1781-1786. DOI: 10.1007/s11011-018-0288-1. [DB: Current Contents, Elsevier Biobase, BIOSIS Previews, Embase, Scopus, MEDLINE, Science Citation Index, Science Citation Index Expanded (Web of Science)] [IF: 2.411; AIF: 4.142; Q3 (2018 InCities JCR SCIE)]
23 Blažytė, Evelina Marija; Samsonė, Viltė Gabrielė; Matulevičienė, Aušra; Aleksiūnienė, Beata; Burnytė, Birutė; Dagytė, Evelina; Tumienė, Birutė; Utkus, Algirdas. The spectrum of associated congenital malformations in Down syndrome: a retrospective Lithuanian cohort study // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P05.10, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4399> [žiūrėta 2018-07-26].
24 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P04.05, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4323> [žiūrėta 2018-07-25].
25 Aleksiūnienė, Beata; Tumienė, Birutė; Utkus, Algirdas. AHDC1 gene truncating 1p36.11p35.3 microdeletion in a patient with developmental delay, dysmorphic features and congenital heart defects // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P11.09, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4798> [žiūrėta 2018-07-25].
26 Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Preikšaitienė, Eglė; Utkus, Algirdas. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P11.08, p.[ 1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4797> [žiūrėta 2018-07-25].
27 Ginevičienė, Valentina; Jakaitienė, Audronė; Ašmenavičiūtė, Ieva; Utkus, Algirdas; Tubelis, Linas. Investigation of MCT1 rs1049434, COL1A1 rs1800012 and COL3A1 rs1800255 variants related to susceptibility to injuries in professional football players // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/5136> [žiūrėta 2018-07-25].
28 Petkevičienė, Milda; Šablauskas, Karolis; Marcinkutė, Rūta; Smirnova, Marija; Songailienė, Jurgita; Utkus, Algirdas. The beginning of the neonatal screening for congenital adrenal hyperplasia in Lithuania: cut-off limits based on 27175 infants // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/1598> [žiūrėta 2018-07-25].
29 Dagytė, Evelina; Matulevičienė, Aušra; Ambrozaitytė, Laima; Laimutė, Rita; Aleksiūnienė, Beata; Burnytė, Birutė; Utkus, Algirdas. 15q13.3 microdeletion and microduplication in patients with neurodevelopment disorders // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/1772> [žiūrėta 2018-07-25].
30 Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Regelskytė, Vaiva; Vaitkevičius, Arūnas; Kučinskas, Vaidutis; Utkus, Algirdas. A report of a family of intermediate Charcot-Marie-Tooth disease with concomitant mutations in the GNB4 and DNM2 genes // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/2259> [žiūrėta 2018-07-25].
31 Matulevičienė, Aušra; Šiaurytė, Kamilė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated Lithuanian cases of oculodentodigital dysplasia: phenotypic analysis and comparison to the literature // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. P11.067C / C, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/2487> [žiūrėta 2018-07-26].
32 Šablauskas, Karolis; Tumienė, Birutė; Utkus, Algirdas. Machine learning approach for detecting epilepsy causing proteins using protein interaction data // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. P16.25A / A, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/5922> [žiūrėta 2018-07-26].
33 Burnytė, Birutė; Grigalionienė, Kristina; Vaitkevičius, Arūnas; Petroška, Donatas; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Utkus, Algirdas. Phenotypic heterogeneity in three patients with M.3243A>G mutation // Journal of neuromuscular diseases: 15th international congress on neuromuscular diseases, July 6 - 10, 2018 Vienna, Austria. Amsterdam : IOS Press. ISSN 2214-3599. eISSN 2214-3602. 2018, vol. 5, suppl. 1, p. 206. DOI: 10.3233/JND-189001. [DB: Scopus, PubMed, Embase]
34 Strupaitė, Rasa; Ambrozaitytė, Laima; Meškienė, Raimonda; Cimbalistienė, Loreta; Strupaitė-Šakalienė, Ieva; Utkus, Algirdas. Clinical heterogeneity of the Lithuanian retinitis pigmentosa group // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademijos leidykla. ISSN 1392-0138. eISSN 2029-4174. 2018, vol. 25, suppl. 1, p. 41-42. Prieiga per internetą: <http://www.lmaleidykla.lt/ojs/public/journals/1/AML2018priedas.pdf> [žiūrėta 2018-09-17]. [DB: PubMed, Academic Search Complete, Index Academicus, Index Copernicus]
35 Mikštienė, V.; Songailienė, J.; Byčkova, J.; Rutkauskienė, G.; Jašinskienė, E.; Verkauskienė, R.; Lesinskas, E.; Utkus, A. Effect of management of thiamine responsive megaloblastic anemia syndrome with sulbutiamine // European journal of human genetics :: EJHG : Abstracts from the 50th European Society of Human Genetics conference: posters : Copenhagen, Denmark, May 27–30, 2017 / European Society of Human Genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, Abstracts Collections, no. P06.52D, p. 312-313. DOI: 10.1038/s41431-018-0247-7. [DB: Scopus, SciSearch, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]
36 Burnytė, Birutė; Grigalionienė, Kristina; Cimbalistienė, Loreta; Vaitkevičius, Arūnas; Petroška, Donatas; Kučinskas, Vaidutis; Utkus, Algirdas. Phenotypic spectrum of patients harbouring the m.3243A>G mutation // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. eISSN 1573-2665. 2018, vol. 41, suppl. 1, p. S159. DOI: 10.1007/s10545-018-0233-9. [DB: CAB Abstracts, MEDLINE, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 3.757; Q1 (2018 InCities JCR SCIE)]
37 Vaišvilas, Mantas; Dirsė, Vaidas; Aleksiūnienė, Beata; Tamulienė, Indrė; Cimbalistienė, Loreta; Utkus, Algirdas; Rascon, Jelena. Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication // Balkan journal of medical genetics. Scopje : Macedonian Academy of Sciences and Arts. ISSN 1311-0160. 2018, vol. 21, iss. 1, p. 87-91. DOI: 10.2478/bjmg-2018-0002. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.769; AIF: 3.940; Q4 (2018 InCities JCR SCIE)]
38 Burnytė, Birutė; Ambrozaitytė, Laima; Grigalionienė, Kristina; Morkūnienė, Aušra; Baronas, Karolis; Kučinskas, Vaidutis; Utkus, Algirdas. Peripheral neuropathies: Application of targeted next generation sequencing for Lithuanian patients cohort // American Society of Human Genetics 68th annual meeting, October 16-20, 2018, San Diego : poster abstracts. Rockville : ASHG. 2018, absrtact no. 1132T, p. 79.
39 Utkus, Algirdas. Cukrinio diabeto genetika // Diabetinė nefropatija : [monografija] / sudarytojas Antanas Norkus ; Lietuvos sveikatos mokslų universitetas; Vilniaus universiteto medicinos fakultetas. Kaunas : Medicininės informacijos centras, 2018. ISBN 9786098070255. p. 50-58.
40 Norkus, Antanas (sudarytojas); Adukauskienė, Dalia; Aniulienė, Rosita; Bumblytė, Inga Arūnė; Čeponienė, Indrė; Čeponis, Jonas; Dalinkevičienė, Eglė; Danytė, Evalda; Francaitė-Daugėlienė, Miglė; Dobrovolskienė, Rimantė; Kasiulevičius, Vytautas; Krasauskienė, Aurelija; Kušleikaitė-Pere, Neda; Laurinavičius, Arvydas; Maleckas, Almantas; Miglinas, Marius; Navardauskaitė, Rūta; Pečeliūnienė, Jūratė; Prakapienė, Edita; Radzevičienė, Lina; Skarupskienė, Inga; Stankuvienė, Asta; Šulcaitė, Rita; Unikas, Ramūnas; Utkus, Algirdas; Vaičiūnienė, Rūta; Veličkienė, Džilda; Verkauskienė, Rasa; Visockienė, Žydrūnė; Žiginskienė, Edita. Diabetinė nefropatija : [monografija] = Diabetic nephropathy / Sudarytojas Antanas Norkus ; Lietuvos sveikatos mokslų universitetas. Vilniaus universiteto Medicinos fakultetas ; [Recenzentai : Leonas Valius, Dalia Daukšienė]. Kaunas : Medicininės informacijos centras, 2018. 368 p. ISBN 9786098070255.
41 Ginevičienė, Valentina; Utkus, Algirdas; Jakaitienė, Audronė; Pushkarev, V.; Dyatlov, D.; Pushkarev, S.; Lekontsev, E. Prevalence of risk alleles of COL1a1 and COL3a1 genetic variants in Lithuanian and Russian athletes // European journal of sports medicine. Athens : EFSMA. ISSN 1792-4979. 2018, vol. 5, suppl. 2, p. 41-42. Prieiga per internetą: <http://www.eujsm.eu/index.php/EUJSM/article/view/171> [žiūrėta 2019-01-16].
42 Aleksiūnienė, Beata; Ambrozaitytė, Laima; Molytė, Alma; Kučinskas, Vaidutis; Utkus, Algirdas. Retų kopijų skaičiaus pokyčių įvertinimas įgimtų širdies ydų grupėje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 11-oji jaunųjų mokslininkų konferencija, 2018 m. gruodžio 14 d.: pranešimų santraukos. Vilnius : Lietuvos mokslų akademijos leidykla. 2018, p. 12. Prieiga per internetą: <http://www.lma.lt/uploads/2017-12-07_BIOATEITIS_pranesimu_santraukos.pdf> [žiūrėta 2019-01-22].
43 Petrulionienė, Žaneta; Skiauterytė, Eglė; Gargalskaitė, Urtė; Kutkienė, Sandra; Rinkūnienė, Egidija; Dženkevičiūtė, Vilma; Mikštienė, Violeta; Preikšaitienė, Eglė; Norvilas, Rimvydas; Griškevičius, Antanas; Petrulionytė, Emilija; Utkus, Algirdas. Case report of extremely rare autosomal recessive familial hypercholesterolemia // Atherosclerosis supplements: International Symposium on Atherosclerosis (ISA), Jun 09-12, 2018,Toronto, Canada. East Park Shannon : Elsevier Ireland Ltd. ISSN 1567-5688. eISSN 1878-5050. 2018, vol. 32, art. no. P1.064, p. 52. DOI: 10.1016/j.atherosclerosissup.2018.04.157. [DB: Science Citation Index Expanded (Web of Science)] [IF: 2.350; AIF: 4.183; Q3 (2018 InCities JCR SCIE)]
44 Ginevičienė, Valentina; Ašmenavičiūtė, Ieva; Utkus, Algirdas. Profesionalių Lietuvos futbolo žaidėjų kolageno genų variantų analizė = Analysis of collagen genes variants in professional Lithuanian football players // Laboratorinė medicina. Vilnius : Lietuvos laboratorinës medicinos draugija. ISSN 1392-6470. 2018, t. 20, Nr. 4, p. 268-276. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/846/2018>. [DB: Index Copernicus]
45 Strupaitė, Rasa; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Ašoklis, Rimvydas Stanislovas; Utkus, Algirdas. X-linked juvenile retinoschisis: phenotypic and genetic characterization // International journal of ophthalmology. Xi'an : IJO Press. ISSN 2222-3959. eISSN 2227-4898. 2018, vol. 11, iss. 11, p. 1875-1878. DOI: 10.18240/ijo.2018.11.22. [DB: DOAJ, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.189; AIF: 2.551; Q4 (2018 InCities JCR SCIE)]
46 Burnytė, Birutė; Kavaliauskienė, Ingrida; Molytė, Alma; Ambrozaitytė, Laima; Rančelis, Tautvydas; Morkūnienė, Aušra; Matulevičienė, Aušra; Tumienė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Novel mutations of the GJB1 gene associated with Charcot-Marie-Tooth type 1X in Lithuanian cohort // European journal of human genetics: Abstracts from the 50th European Society of human genetics conference: posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, suppl., art. no. P10.23C, p. 431-432. DOI: 10.1038/s41431-018-0247-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]
47 Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Praninskienė, Rūta; Ambrozaitytė, Laima; Utkus, Algirdas. Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene // European journal of human genetics: Abstracts from the 50th European Society of human genetics conference: posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, suppl., art. no. P10.35C, p. 437-438. DOI: 10.1038/s41431-018-0247-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]
48 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Aleksiūnienė, Beata; Grigalionienė, Kristina; Ambrozaitytė, Laima; Norkūnienė, V.; Utkus, Algirdas. A case of syndromic split hand/foot malformation type 1 with de novo 7q21.3 deletion // European journal of human genetics: Abstracts from the 50th European Society of human genetics conference: posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, suppl., art. no. P11.109A, p. 502. DOI: 10.1038/s41431-018-0247-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]

2017
1 Preikšaitienė, Eglė; Tumienė, Birutė; Maldžienė, Živilė; Pranckevičienė, Erinija; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion // Ophthalmic genetics. Philadelphia : Taylor & Francis Inc. ISSN 1381-6810. eISSN 1744-5094. 2017, Vol. 38, no 4, p. 383-386. DOI: 10.1080/13816810.2016.1227452. [DB: Academic Search Complete, Academic Search Premier, Current Abstracts, Embase, Scopus, PubMed, Current Contents, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 1.574; AIF: 3.285; Q3 (2017 InCities JCR SCIE)]
2 Tumienė, Birutė; Voisin, Norine; Preikšaitienė, Eglė; Petroška, Donatas; Grikinienė, Jurgita; Samaitienė, Rūta; Utkus, Algirdas; Reymond, Alexandre; Kučinskas, Vaidutis. Inflammatory myopathy in a patient with Aicardi-Goutières syndrome // European journal of medical genetics. Amsterdam : Elsevier. ISSN 1769-7212. eISSN 1878-0849. 2017, Vol. 60, no 3, p. 154-158. DOI: 10.1016/j.ejmg.2016.12.004. [DB: Science Citation Index Expanded (Web of Science), Scopus, Academic Search Premier, BIOSIS Previews, MEDLINE] [IF: 2.004; AIF: 3.953; Q3 (2017 InCities JCR SCIE)]
3 Maldžienė, Živilė; Preikšaitienė, Eglė; Ignotienė, Salomėja; Kapitanova, Natalija; Utkus, Algirdas; Kučinskas, Vaidutis. A de novo pericentric inversion in chromosome 4 associated with disruption of PITX2 and a microdeletion in 4p15.2 in a patient with Axenfeld-Rieger syndrome and developmental delay // Cytogenetic and genome research. Basel : Karger Publishers. ISSN 1424-8581. eISSN 1424-859X. 2017, vol. 151, iss. 1, p. 5-9. DOI: 10.1159/000456695. [DB: Science Citation Index Expanded (Web of Science), Scopus, Academic Search Premier, BIOSIS Previews, MEDLINE] [IF: 1.587; AIF: 4.889; Q4 (2017 InCities JCR SCIE)]
4 Norvydas, Matas; Ginevičienė, Valentina; Milašius, Kazys; Tubelis, Linas; Utkus, Algirdas. Relationship between CKM gene variant and physical performance phenotypes in Lithuanian elite athletes // Multiplicity of sport science in practice : 10th Baltic sport science conference : abstracts : April 26–28, 2017 Riga, Latvia. Riga : Latvian Academy of Sport Education, 2017. ISBN 9789934520334. P. 53-54.
5 Ginevičienė, Valentina; Drozdovska, S. B.; Tubelis, Linas; Utkus, Algirdas. The association of MCT1 gene variant with football players status in Lithuanian and Ukrainian cohorts // Multiplicity of sport science in practice : 10th Baltic sport science conference : abstracts : April 26–28, 2017 Riga, Latvia. Riga : Latvian Academy of Sport Education, 2017. ISBN 9789934520334. P. 115.
6 Ginevičienė, Valentina; Jakaitienė, Audronė; Milašius, Kazys; Tubelis, Linas; Utkus, Algirdas. Relationships between ACE, AGT, AGTR1, MB genotypes and physical performance phenotype in Lithuanian elite athletes // 8th international scientific conference on kinesiology : proceedings : Opatija, Croatia, 10-14 May, 2017 / editors-in-chief Dragan Milanović, Goran Sporiš, Sanja Šalaj and Dario Škegro. Zagreb : University of Zagreb, 2017. ISBN 9789533170497. P. 85. Prieiga per internetą: <http://www.kif.unizg.hr/images/50005079/8_International_conference_kinesiology-2017.pdf>. [DB: Conference Proceedings Citation Index - Science (Web of Science)]
7 Grigalionienė, Kristina; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. MtDNA sequence analysis in the group of Lithuanian patients with clinically suspected mitochondrial disease // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P06.32. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=aebd0bff-263b-4f64-ae13-3e39f4e607fa&cKey=bf4d158b-c657-4544-8aea-0708a9ae23e0&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
8 Aleksiūnienė, Beata; Matulevičiūtė, Rugilė; Matulevičienė, Aušra; Burnytė, Birutė; Krasovskaja, Natalija; Ambrozaitytė, Laima; Mikštienė, Violeta; Dirsė, Vaidas; Utkus, Algirdas; Kučinskas, Vaidutis. Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: a case report // Medicine (Baltimore). Philadelphia : Lippincott Williams & Wilkins. ISSN 0025-7974. eISSN 1536-5964. 2017, Vol. 96, no 16, Art. no e6521 [p. 1-6]. DOI: 10.1097/MD.0000000000006521. [DB: Science Citation Index Expanded (Web of Science), Scopus, CAB Abstracts, Embase, MEDLINE] [IF: 2.028; AIF: 4.640; Q2 (2017 InCities JCR SCIE)]
9 Lengvenytė, Aistė; Strumila, Robertas; Dlugauskas, Edgaras; Utkus, Algirdas; Navickas, Alvydas. The beginning of pharmacogenetic research with psychiatric drugs in Lithuania // WPA inter zonal congress : poster abstracts book, Vilnius, 3-6 May 2017. Vilnius : WPA. 2017, p. 18 [abstract no. Ps17]. Prieiga per internetą: <http://wpavilnius2017.com/sessions/poster-session-ps17-the-beginning-of-pharmacogenetic-research-with-psychiatric-drugs-in-lithuania/> [žiūrėta 2017-08-03].
10 Pakutkaitė, Indrė Kotryna; Dlugauskas, Edgaras; Norkūnienė, Viktorija; Utkus, Algirdas; Navickas, Alvydas. Higher rates of depression among Huntington's disease gene carriers // WPA inter zonal congress : poster abstracts book, Vilnius, 3-6 May 2017. Vilnius : WPA. 2017, p. 43 [abstract no. Ps42]. Prieiga per internetą: <http://wpavilnius2017.com/sessions/poster-session-ps42-higher-rates-of-depression-among-huntingtons-disease-gene-carriers/> [žiūrėta 2017-08-03].
11 Savickienė, Jūratė; Matuzevičius, Dalius; Baronaitė, Sandra; Treigytė, Gražina; Krasovskaja, Natalija; Zaikova, Ilona; Navakauskas, Dalius; Utkus, Algirdas; Navakauskienė, Rūta. Histone modifications pattern associated with a state of mesenchymal stem cell cultures derived from amniotic fluid of normal and fetus-affected gestations // Journal of cellular biochemistry. Hoboken : Wiley. ISSN 0730-2312. eISSN 1097-4644. 2017, Vol. 118, Iss. 11, p. 3744-3755. DOI: 10.1002/jcb.26022. [DB: Science Citation Index Expanded (Web of Science), Scopus, BIOSIS Previews, CAB Abstracts, Chemical abstracts, Embase, MEDLINE] [IF: 2.959; AIF: 5.053; Q2 (2017 InCities JCR SCIE)]
12 Burnytė, Birutė; Grigalionienė, Kristina; Burokienė, Vilmanta; Besusparis, Justinas; Ambrozaitytė, Laima; Utkus, Algirdas. Diagnostic management challenges in an infant with possible diagnosis of mitochondrial disease // 14th Conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : program and abstracts / Baltic Child Neurology Association (BCNA). Riga : Baltic Child Neurology Association (BCNA). 2017, p. 27.
13 Stavusis, Janis; Inashkina, Inna; Pelnena, Dita; Micule, Ieva; Strautmanis, Jurgis; Naudina, Maruta, S.; Krumina, Astrida; Lace, Baiba; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Utkus, Algirdas; Burnytė, Birutė; Matulevičienė, Aušra. Limb-Girdle muscular dystrophies - the current state in Latvia and Lithuania // 14th Conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : program and abstracts / Baltic Child Neurology Association (BCNA). Riga : Baltic Child Neurology Association (BCNA). 2017, p. 49.
14 Tumienė, Birutė; Utkus, Algirdas. Monogeninių epilepsijų genetinės struktūros tyrimas bioinformacinėmis priemonėmis = Analysis of the genetic structure of monogenic epilepsies through bioinformatic approaches // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2017, t. 19, nr. 1, p. 26-30. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/622/2017> [žiūrėta 2018-12-20]. [DB: Index Copernicus]
15 Strupaitė, Rasa; Tumienė, Birutė; Kohl, Susanne; Utkus, Algirdas. Achromatopsija, nulemta CNGB3 geno homozigotinės mutacijos: šeiminio atvejo pristatymas = Achromatopsia due to a homozygous mutation in CNGB3 gene: description of a familial case // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2017, t. 19, nr. 1, p. 42-48. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/628/2017> [žiūrėta 2018-12-20]. [DB: Index Copernicus]
16 Kumžaitė, Gintarė; Jonušas, Justinas; Preikšaitienė, Eglė; Šliužas, Vytautas; Utkus, Algirdas. X chromosomos monosomija ir struktūros pokyčiai, lemiantys Ternerio sindromą: retrospektyvusis tyrimas ir literatūros apžvalga = Monosomy and structural changes of X chromosome determining Turner’s syndrome: retrospective research and literature review // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2017, t. 19, nr. 2, p. 99-103. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/647/2017> [žiūrėta 2018-12-20]. [DB: Index Copernicus]
17 Dlugauskas, Edgaras; Lengvenytė, Aistė; Strumila, Robertas; Utkus, Algirdas. Poor CYP2D6 and ultrarapid CYP2C19 metabolizer: Clinical challenge in psychiatric treatment // European psychiatry. Paris : Elsevier France. ISSN 0924-9338. eISSN 1778-3585. 2017, Vol. 41, suppl. p. S163. DOI: 10.1016/j.eurpsy.2017.01.2042. [DB: MEDLINE, BIOSIS Previews, Academic Search Premier, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 4.129; AIF: 3.559; Q1 (2017 InCities JCR SCIE)]
18 Šiaurytė, Kamilė; Preikšaitienė, Eglė; Abelytė, Rasa; Utkus, Algirdas. 1A tipo Charcot-Ma rie-Tooth neuropatija: klinikinis aprašymas ir literatūros apžvalga = Charcot-Marie-Tooth type 1a neuropathy: clinical report and review of the literature // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2017, T. 21, Nr. 2, p. 116-121. [DB: Index Copernicus]
19 Glemžaitė, Monika; Baronaitė, Sandra; Zentelytė, Aistė; Savickienė, Jūratė; Krasovskaja, Natalija; Utkus, Algirdas; Navakauskienė, Rūta. Characteristics and differentiation potential of human amniotic fluid-derived mesenchymal stem cells // Hydra XIII : The European summer school on stem cells and regenerative medicine, 10-17 September, 2017, Greece : [abstracts]. Hydra. 2017, p. 28.
20 Cimbalistienė, Loreta; Burnytė, Birutė; Černiauskienė, Vilija; Morkūnienė, Aušra; Ambrozaitytė, Laima; Janavičius, Ramūnas; Utkus, Algirdas. Novel hemizygous mutation of TAZ gene in a boy with atypical Barth syndrome // Journal of Inborn Errors of Metabolism and Screening. Thousand Oaks, CA : Sage Publications Ltd. ISSN 2326-4098. eISSN 2326-4594. 2017, Vol. 5, p. 242. DOI: 10.1177/2326409817722292. [DB: DOAJ]
21 Tumienė, Birutė; Maldžienė, Živilė; Preikšaitienė, Eglė; Mameniškienė, Rūta; Utkus, Algirdas; Kučinskas, Vaidutis. Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome // Journal of applied genetics. Heidelberg : Springer. ISSN 1234-1983. eISSN 2190-3883. 2017, vol. 58, no. 4, p. 467-474. DOI: 10.1007/s13353-017-0408-3. [DB: Science Citation Index Expanded (Web of Science), Scopus, BIOSIS Previews, Embase, MEDLINE] [IF: 1.756; AIF: 3.757; Q3 (2017 InCities JCR SCIE)]
22 Šliužas, Vytautas; Aleksiūnienė, Beata; Dagytė, Evelina; Ambrozaitytė, Laima; Tumienė, Birutė; Burnytė, Birutė; Utkus, Algirdas. 16p11.2 microdeletion and microduplication in two Lithuanian patients with speech delay // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P11.01. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=b92ea822-f3b4-480e-9df7-6a4f558bd64c&cKey=b6069b02-982c-46c4-8f03-f0b2b77c5ebd&mKey={15A3630E-7769-4D64-A80A-47F190AC2F4F}> [žiūrėta 2017-09-27].
23 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Aleksiūnienė, Beata; Grigalionienė, Kristina; Ambrozaitytė, Laima; Norkūnienė, Valerija; Utkus, Algirdas. A case of syndromic split hand/foot malformation type 1 with de novo 7q21.3 deletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. P11.109A, [1 p.]. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5ceff91c-a4bf-4aba-bcc0-877da2315b85&cKey=6f21b67d-3233-4580-98e3-13d0ad6261f3&mKey={15A3630E-7769-4D64-A80A-47F190AC2F4F}> [žiūrėta 2017-09-28].
24 Preikšaitienė, Eglė; Laimutė, Rita; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Developmental delay, congenital heart defect and cleft palate in a patient with 1q22q23.1 microdeletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P08.05. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5c74c3f8-9546-46e1-9052-674617837b85&cKey=af50768f-4104-40df-bd53-22899fe68467&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-09-28].
25 Mikštienė, Violeta; Songailienė, Jurgita; Byčkova, Jekaterina; Rutkauskienė, Giedrė; Jašinskienė, Edita; Verkauskienė, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas. Effect of management of thiamine responsive megaloblastic anemia syndrome with sulbutiamine // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, no. P06.52D. (P06 Metabolic and Mitochondrial Disorders). Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=4c5bdecb-efe6-4120-a5f4-8378d20a0d7f&cKey=ea66d6b6-85bf-4f67-8db7-d9dd53d30813&mKey={15A3630E-7769-4D64-A80A-47F190AC2F4F}> [žiūrėta 2017-09-28].
26 Lengvenytė, Aistė; Strumila, Robertas; Dlugauskas, Edgaras; Utkus, Algirdas. CYP450 enzymes genetic polymorphism influence on treatment of affective disorders // European psychiatry. Paris : Elsevier France. ISSN 0924-9338. eISSN 1778-3585. 2017, Vol. 41, suppl. p. S167-S168 [Abstract: no. EW0186]. DOI: 10.1016/j.eurpsy.2017.01.2055. [DB: Scopus, Academic Search Premier, BIOSIS Previews, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.129; AIF: 3.559; Q1 (2017 InCities JCR SCIE)]
27 Glemžaitė, Monika; Zubova, Anastasija; Krasovskaja, Natalija; Utkus, Algirdas; Navakauskienė, Rūta. DNMT and p53 inhibitors are potential cardiomyogenic differentiation inducers of human amniotic fluid derived mesenchymal stem cells // Journal of stem cell research & therapy. Hyderabad : OMICS International. ISSN 2157-7633. 2017, Vol. 7, No. 8, suppl. p. 52.
28 Aleksiūnienė, Beata; Matulevičienė, Aušra; Ambrozaitytė, Laima; Jakutis, Virginijus; Utkus, Algirdas. Hypoplastic right ventricle, dysmorphic features and brain structural anomalies in a patient with a de novo 1p36.33p36.32 deletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P05.16. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=93d402d3-cf3b-4df4-9e30-3de4ac5a135f&cKey=8b454268-9c3d-4e31-902e-06f2510a147b&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-02].
29 Burnytė, Birutė; Kavaliauskienė, Ingrida; Molytė, Alma; Ambrozaitytė, Laima; Rančelis, Tautvydas; Morkūnienė, Aušra; Matulevičienė, Aušra; Tumienė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Novel mutations of the GJB1 gene associated with Charcot-Marie-Tooth type 1X in Lithuanian cohort // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no P10.23C. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=2d379845-aecd-4ea0-a85f-876226664d8d&cKey=8f3b4158-99ae-4bde-b14e-93101ca830a0&mKey=%7b15A3630E-7769-4D64-A80A-47F190AC2F4F%7d> [žiūrėta 2017-10-02].
30 Matulevičienė, Aušra; Burnytė, Birutė; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Matulevičiūtė, Rugilė; Aleksiūnienė, Beata; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. Variable expressivity of the c.749C>G mutation in the FGFR3 gene in two unrelated families of Muenke syndrome // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P04.14. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=bba53598-181c-4525-a44f-643ebb9088e3&cKey=1d10f7e1-d9cf-4da2-910b-aad3dc1b6308&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
31 Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Praninskienė, Rūta; Ambrozaitytė, Laima; Utkus, Algirdas. Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. P10.35C. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=2d379845-aecd-4ea0-a85f-876226664d8d&cKey=b379bbc1-abdf-4fb5-9505-1d418bb8a5ec&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
32 Kačergius, Tomas; Abu‑Lafi, Saleh; Kirkliauskienė, Agnė; Gabė, Vika; Adawi,, Azmi; Rayan, Mahmoud; Qutob, Mutaz; Stukas, Rimantas; Utkus, Algirdas; Zeidan, Mouhammad; Rayan, Anwar. Inhibitory capacity of Rhus coriaria L. extract and its major component methyl gallate on Streptococcus mutans biofilm formation by optical profilometry: Potential applications for oral health // Molecular medicine reports. Athens : Spandidos Publ Ltd. ISSN 1791-2997. eISSN 1791-3004. 2017, Vol. 16, iss. 1, p. 949-956. DOI: 10.3892/mmr.2017.6674. [DB: Science Citation Index Expanded (Web of Science), Scopus, Chemical abstracts, Embase, MEDLINE] [IF: 1.922; AIF: 3.818; Q3 (2017 InCities JCR SCIE)]
33 Burnytė, Birutė; Kavaliauskienė, Ingrida; Ambrozaitytė, Laima; Morkūnienė, Aušra; Matulevičienė, Aušra; Tumienė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Phenotypical features and genetic findings in Lithuanian patients with CMTX1 // American Society of Human Genetics 67th Annual Meeting, October 17-21, 2017, Orlando, Florida : poster abstracts. Rockville : ASHG. 2017, p. 327. Prieiga per internetą: <https://www.ashg.org/2017meeting/pdf/ASHG-2017_Poster-Abstracts.pdf> [žiūrėta 2017-11-09].
34 Kučinskas, Vaidutis; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Strupaitė, Rasa; Ašoklis, Rimvydas Stanislovas; Utkus, Algirdas. Novel RS1 gene mutations of X-linked retinoschysis Lithuanian patients // American Society of Human Genetics 67th Annual Meeting, October 17-21, 2017, Orlando, Florida : poster abstracts. Rockville : ASHG. 2017, Abstract 1110F; p. 370. Prieiga per internetą: <https://www.ashg.org/2017meeting/pdf/ASHG-2017_Poster-Abstracts.pdf> [žiūrėta 2017-11-09].
35 Šiaurytė, Kamilė; Aleksandravičiūtė, Laima; Šimkūnaitė-Rizgelienė, Renata; Preikšaitienė, Eglė; Utkus, Algirdas. Periorbitinės srities dismorfologinis vertinimas klinikinėje genetikoje = Dysmorphic assessment of the periorbital region in the clinical genetics // Pediatrija. Vilnius : UAB "Baltijos idėjų grupė" ir partneriai. ISSN 1648-4630. 2017, Nr. 3(79), p. 30-36.
36 Tumienė, Birutė; Maver, Aleš; Peterlin, Borut; Kučinskas, Vaidutis; Utkus, Algirdas. Genominių veiksnių įtaka epilepsijos genetinei etiologinei struktūrai ir diagnostikai // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 10-oji jaunųjų mokslininkų konferencija, 2017 m. gruodžio 7 d.: pranešimų santraukos. Vilnius : Lietuvos mokslų akademijos leidykla. 2017, p. 12-13. Prieiga per internetą: <http://www.lma.lt/uploads/2017-12-07_BIOATEITIS_pranesimu_santraukos.pdf> [žiūrėta 2018-01-08].
37 Utkus, Algirdas; Dlugauskas, Edgaras; Dagytė, Evelina. Pharmacogenomic testing for the Lithuanian depression patients // WPA inter zonal congress : oral session abstracts book, Vilnius, 3-6 May 2017 : WPA. 2017, Abstract no PcA1-3, p. 3. Prieiga per internetą: <http://wpavilnius2017.com/abstracts/pharmacogenomic-testing-for-the-lithuanian-depression-patients/> [žiūrėta 2018-03-05].
38 Žaliūnas, Bronius; Bartkevičienė, Daiva; Drąsutienė, Gražina Stanislava; Utkus, Algirdas; Kurmanavičius, Juozas. Fetal biometry: relevance in obstetrical practice // Medicina. Kaunas : Lietuvos sveikatos mokslų universitetas. ISSN 1010-660X. eISSN 1648-9144. 2017, vol.. 53, iss. 6, p. 357-364. DOI: 10.1016/j.medici.2018.01.004. [DB: Index Copernicus, Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 1.429; AIF: 4.640; Q3 (2017 InCities JCR SCIE)]

2016
1 Matulevičienė, Aušra; Meškienė, Raimonda; Morkūnienė, Aušra; Ambrozaitytė, Laima; Meškauskas, Raimundas; Garunkštienė, Rasa; Drazdienė, Nijolė; Utkus, Algirdas; Kučinskas, Vaidutis. Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy // Clinical dysmorphology. Philadelphia : Wolters Kluwer Health, Inc. ISSN 0962-8827. eISSN 1473-5717. 2016, vol. 25, iss. 1, p. 7-11. DOI: 10.1097/MCD.0000000000000100. [DB: PubMed, Scopus, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 0.573; AIF: 4.064; Q4 (2016 InCities JCR SCIE)]
2 Preikšaitienė, Eglė; Benušienė, Eglė; Matulevičienė, Aušra; Grigalionienė, Kristina; Utkus, Algirdas; Kučinskas, Vaidutis. SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings // American journal of medical genetics. Part A. New York : Wiley Periodicals. ISSN 1552-4825. 2016, Vol. 170, no 3, p. 781-784. DOI: 10.1002/ajmg.a.37466. [DB: BIOSIS Previews, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 2.259; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
3 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Gradauskienė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Uktverytė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population // BMC genetics. London : BioMed Central Ltd. ISSN 1471-2156. 2016, Vol. 17, p. art. no 45 [1-12]. DOI: 10.1186/s12863-016-0354-9. [DB: Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
4 Pitsiladis, Yannis P; Tanaka, Masashi; Eynon, Nir; Boushard, Claude; North, Kathryn N; Williams, Alun G; Collins, Malcolm; Moran, Colin N; Britton, Steven L; Fuku, Noriyuki; Ashley, Euan A; Klissouras, Vassilis; Lucia, Alejandro; Ahmetov, Ildus I; De Geus, Eco; Alsayrafi, Mohammed; Ginevičienė, Valentina (tyrėjas); Jakaitienė, Audronė (tyrėjas); Kučinskas, Vaidutis (tyrėjas); Tubelis, Linas (tyrėjas); Utkus, Algirdas (tyrėjas); Milašius, Kazys (tyrėjas); Venckunas, Tomas (tyrėjas); Skurvydas, Albertas (tyrėjas); Stasiulis, Arvydas (tyrėjas). Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance // Physiological Genomics. Bethesda : American Physiological Society. ISSN 1094-8341. 2016, vol. 48, no. 3, p. 183-190. DOI: 10.1152/physiolgenomics.00105.2015. [DB: Scopus, BIOSIS Previews, Current Contents / Life Sciences, Science Citation Index, Science Citation Index Expanded (Web of Science)] [IF: 3.044; AIF: 4.257; Q2 (2016 InCities JCR SCIE)]
5 Utkus, Algirdas; Dagytė, Evelina; Krasovskaja, Natalija; Matulevičienė, Aušra; Manelienė, Rasmutė; Jusienė, Roma; Šalugienė, Neringa; Jasaitytė, Ilona; Račkauskienė, Skaidrė. Dauno sindromas: patarimai tėvams ir specialistams : mokymo priemonė / Algirdas Utkus, Evelina Dagytė, Natalija Krasovskaja... [et al]. Vilniaus universitetas : Vilniaus universiteto leidykla, 2016. 118 p. ISBN 9786094596650.
6 Pečiulienė, Skaistė; Burnytė, Birutė; Gudaitienė, Rymanta; Rusonienė, Skirmantė; Drazdienė, Nijolė; Liubšys, Arūnas; Utkus, Algirdas. Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra // Pediatric Rheumatology. London : BioMed Central Ltd. ISSN 1546-0096. eISSN 1546-0096. 2016, Vol. 14, Art. No. 19. DOI: 10.1186/s12969-016-0081-9. [DB: Academic Search Complete, TOC Premier, Academic OneFile, Scopus, PubMed, MEDLINE, Current Contents, Science Citation Index Expanded (Web of Science)] [IF: 2.283; AIF: 2.998; Q2 (2016 InCities JCR SCIE)]
7 Utkus, Algirdas; Songailienė, Jurgita; Smirnova, Marija. Visuotinė nujagimių patikra Lietuvoje – visuomenės sveikatos dalis // Vaikų sveikatą stiprinanti aplinka. Kurkime ją drauge: respublikinė mokslinė praktinė konferencija, Vilnius, 2016 m., kovo 31 d. : straipsnių rinkinys. Vilnius : Vilniaus universiteto leidykla, 2016. ISBN 9786094596735. eISBN 9786094596728. p. 7-10.
8 Šablauskas, Karolis; Songailienė, Jurgita; Preikšaitienė, Eglė; Petroška, Donatas; Utkus, Algirdas. Mitochondrinės DNR delecijos sindromas: klinikinis atvejis ir literatūros apžvalga = Mitochondrial DNA deletion sydrome: clinical report and review of the literature // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2016, T. 20, Nr. 1, p. 48-52. [DB: Index Copernicus]
9 Inashkina, Inna; Jankevics, Eriks; Stavusis, Janis; Vasiljeva, Inta; Viksne, Kristine; Micule, Ieva; Strautmanis, Jurgis; Naudina, Maruta S.; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Krumina, Astrida; Utkus, Algirdas; Burnytė, Birutė; Matulevičienė, Aušra; Lace, Baiba. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies // BMC Musculoskeletal Disorders. London : BioMed Central Ltd. ISSN 1471-2474. 2016, Vol. 17, Art. No. 200. DOI: 10.1186/s12891-016-1058-z. [DB: CAB Abstracts, Current Contents, CAS (nenaudotinas), MEDLINE, PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.739; AIF: 3.110; Q2 (2016 InCities JCR SCIE)]
10 Ginevičienė, Valentina; Jakaitienė, Audronė; Aksenov, M.O.; Aksenova, A.V.; Druzhevskaya, A.M.; Astratenkova, I.V.; Egorova, E.S.; Gabdrakhmanova, L.J.; Tubelis, Linas; Kučinskas, Vaidutis; Utkus, Algirdas. Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes // Biology of Sport. Warsaw : Instytut Sportu. ISSN 0860-021X. eISSN 2083-1862. 2016, Vol. 33, No. 3, p. 199-206. DOI: 10.5604/20831862.1201051. [DB: CABI Abstracts Databases, CINAHL Plus, SPORTDiscus with Full Text, TOC Premier, Scopus, PubMed, Science Citation Index Expanded (Web of Science)] [IF: 1.436; AIF: 2.482; Q3 (2016 InCities JCR SCIE)]
11 Ginevičienė, Valentina; Pranckevičienė, Erinija; Tubelis, Linas; Utkus, Algirdas; Kučinskas, Vaidutis. Association of gene variants with high-speed, strength and power sports in Lithuanians // Current issues and new ideas in sport science : 9th conference of the Baltic sport science society : abstracts, Kaunas, 27-29 April 2016. Kaunas : Lietuvos sporto universitetas, 2016. ISBN 9786098040968. p. 91. Prieiga per internetą: <http://www.lsu.lt/sites/default/files/paveiksleliai/konferencijos_teziu_rinkinys_2016_04_25_2_0.pdf> [žiūrėta 2016-05-11].
12 Aleksiūnienė, Beata; Ambrozaitytė, Laima; Utkus, Algirdas. Comparative whole genome hybridisation methods in molecular diagnostics // Eesti arst. Tartu : Eesti Arstide Liit. ISSN 0235-8026. 2016, Vol. 95, Suppl. 1, p. 33. [DB: Embase, INIS Collection Search]
13 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Gradauskienė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population // Evoliucinė medicina: šiuolakinių sveikatos problemų evoliuciniai mechanizmai ir dėsningumai = Evolutionary medicine: pre-existing mechanisms and patterns of current health issues : trečioji tarptautinė konferencija, 2016 m. birželio mėn. 14-19 d. Vilnius : Vilniaus universitetas, 2016. ISBN 9786094597206. p. 65.
14 Strupaitė, Rasa; Tumienė, Birutė; Utkus, Algirdas. Inherited retinal dystrophies - case series // Evoliucinė medicina: šiuolakinių sveikatos problemų evoliuciniai mechanizmai ir dėsningumai = Evolutionary medicine: pre-existing mechanisms and patterns of current health issues : trečioji tarptautinė konferencija, 2016 m. birželio mėn. 14-19 d. Vilnius : Vilniaus universitetas, 2016. ISBN 9786094597206. p. 74.
15 Dlugauskas, Edgaras; Lengvenytė, Aistė; Strumila, Robertas; Utkus, Algirdas. Influence of CYP450 enzymes genetic polymorphism on treatment of depression and bipolar disorder // Evoliucinė medicina: šiuolakinių sveikatos problemų evoliuciniai mechanizmai ir dėsningumai = Evolutionary medicine: pre-existing mechanisms and patterns of current health issues : trečioji tarptautinė konferencija, 2016 m. birželio mėn. 14-19 d. Vilnius : Vilniaus universitetas, 2016. ISBN 9786094597206. p. 89.
16 Benušienė, Eglė; Rachlevičiūtė, Marija; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas. A novel TAZ gene mutation detected prenatally in a family with Barth syndrome // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, Vol. 24, e-suppl. 1, p. 408. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf> [žiūrėta 2016-06-23]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
17 Lengvenytė, Aistė; Strumila, Robertas; Dlugauskas, Edgaras; Utkus, Algirdas. Farmakogenetinio tyrimo vertinimas psichiatrijoje: retrospektyvi klinikinių atvejų analizė // Laboratorinė medicina = Laboratory medicine. Vilnius : Lietuvos laboratorinės medicinos draugija : Lietuvos žmogaus genetikos draugija. ISSN 1392-6470. 2016, t. 18, Nr. 1(69), p. 23-28. Prieiga per internetą: <http://zurnalas.llmd.lt/en/straipsnis/visas/553/2016> [žiūrėta 2017-04-27]. [DB: Index Copernicus]
18 Šliužas, Vytautas; Maldžienė, Živilė; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Patient with 22q11.2 microdeletion and atypical clinical features // European journal of human genetics: The European Human Genetics Conference, 2016, May 21-24, Barcelona, Spain : abstracts book. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-suppl. 1, p. 233. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf> [žiūrėta 2016-08-31]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
19 Burnytė, Birutė; Inashkina, Inna; Lace, Baiba; Pelnena, Dita; Molytė, Alma; Grigalionienė, Kristina; Kučinskas, Vaidutis; Utkus, Algirdas. Implementing the survey of disease natural history as a tool to collect complex information on mitochondrial patients in Lithuania and Latvia // European journal of human genetics: European Human Genetics Conference 2016, May 21-24, 2016, Barcelona, Spain. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-Supplement 1, p. 431. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
20 Ginevičienė, Valentina; Jakaitienė, Audronė; Drozdovska, Svitlana; Tubelis, Linas; Kučinskas, Vaidutis; Utkus, Algirdas. Association analysis of five genes polymorphisms in two cohorts of European athletes // European journal of human genetics: European Human Genetics Conference 2016, May 21-24, 2016, Barcelona, Spain. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-Supplement 1, p. 482-483. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf> [žiūrėta 2016-09-05]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
21 Mikštienė, Violeta; Vėbraitė, Ieva; Alzbutas, Gediminas; Rančelis, Tautvydas; Utkus, Algirdas; Popendikytė, Violeta. Multiplex PCR and NGS in detection mutations of target genes associated with hearing loss // European journal of human genetics: The European Human Genetics Conference, 2016, May 21-24, Barcelona, Spain : abstracts book. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-suppl. 1, p. 328-329. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
22 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Šliužas, Vytautas; Utkus, Algirdas. Rare case of male infertility due to monosomy X and structural rearrangement of chromosome Y // European journal of human genetics: The European Human Genetics Conference, 2016, May 21-24, Barcelona, Spain : abstracts book. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-suppl. 1, p. 412. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
23 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Dirsė, Vaidas; Gineikienė, Eglė; Marcinkutė, Rūta; Utkus, Algirdas. De novo 15q26.2q26.3 duplication and 15q26.3 deletion in a patient with an anomalous parietal sutures // European journal of human genetics: The European Human Genetics Conference, 2016, May 21-24, Barcelona, Spain : abstracts book. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-suppl. 1, p. 452-453. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
24 Preikšaitienė, Eglė; Ambrozaitytė, Laima; Maldžienė, Živilė; Morkūnienė, Aušra; Cimbalistienė, Loreta; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis. Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies = Intelektinės negalios genetinių priežasčių nustatymas naudojant viso genomo analizės molekulines technologijas // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. eISSN 2029-4174. 2016, Vol. 23, no 2, p. 73-85. DOI: 10.6001/actamedica.v23i2.3324. [DB: Index Copernicus, TOC Premier, Current Abstracts]
25 Matulevičienė, Aušra; Ambrozaitytė, Laima; Matulevičiūtė, Rugilė; Liubšys, Arūnas; Utkus, Algirdas; Kučinskas, Vaidutis. A patient with Raine syndrome due to novel mutations in FAM20C gene // Twenty-seventh European meeting on dysmorphology, 7-9 September 2016, Le Bischenberg, France [abstracts]. Bischoffsheim. 2016, p. 4.
26 Burnytė, Birutė; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Utkus, Algirdas. Novel homozygous SPG11 mutation in the molecular diagnosis of hereditary spastic paraplegia // American Society of Human Genetics 66th Annual Meeting, October 18–22, 2016, Vancouver, Canada : poster abstracts. Vancouver : ASHG. 2016, p. 1356.
27 Ambrozaitytė, Laima; Burnytė, Birutė; Cimbalistienė, Loreta; Tumienė, Birutė; Utkus, Algirdas; Kavaliauskienė, Ingrida; Rančelis, Tautvydas; Kučinskas, Vaidutis. GNPTAB gene mutations in the Lithuanian mucolipidosis II and II/III patients // American Society of Human Genetics 66th Annual Meeting, October 18–22, 2016, Vancouver, Canada : poster abstracts. Vancouver : ASHG. 2016, p. 1449.
28 Ginevičienė, Valentina; Jakaitienė, Audronė; Milašius, Kazys; Tubelis, Linas; Utkus, Algirdas. P-18 Genetic variants in myostatin gene and physical performance in Lithuanian athletes // British journal of sports medicine. 34th FIMS world sports medicine congress : 29 September - 2 October 2016, Ljubljana, Slovenia. London : BMJ publishing group. ISSN 0306-3674. 2016, Vol. 50, iss. 1 (Supplement) A41, p. 1. Prieiga per internetą: <http://bjsm.bmj.com/content/50/Suppl_1/A41.1.abstract>. [DB: Science Citation Index Expanded (Web of Science)] [IF: 6.557; AIF: 2.482; Q1 (2016 InCities JCR SCIE)]
29 Bakšienė, Marija; Benušienė, Eglė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome // Balkan journal of medical genetics. Skopje : Macedonian Academy of Sciences and Arts. ISSN 1311-0160. 2016, Vol. 19, No. 2, p. 95-99. DOI: 10.1515/bjmg-2016-0043. [DB: PubMed, Biobase, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.463; AIF: 4.064; Q4 (2016 InCities JCR SCIE)]
30 Burnytė, Birutė; Uktverytė, Ingrida; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Utkus, Algirdas. Paveldimos neuropatijos: epidemiologinė ir mutacijų analizė GJB1 gene // Bioateitis: gamtos ir gyvybės mokslų perspektyvos: 2016 m. jaunųjų mokslininkų konferencijos pranešimų santraukos : [2016 m. gruodžio 7 d., Vilnius] / Lietuvos mokslų akademijos Biologijos, medicinos ir geomokslų skyrius. Vilnius : Lietuvos mokslų akademijos leidykla. 2016, p. 7-8. Prieiga per internetą: <http://mail.ma.lt/components/com_rseventspro/assets/images/files/2016-12-07_JMK_pranesimu_santrauka.pdf> [žiūrėta 2017-08-07].
31 Dlugauskas, Edgaras; Lengvenytė, Aistė; Strumila, Robertas; Utkus, Algirdas. Farmakogenetika psichiatrijoje - kelias į individualizuotą gydymą // Bioateitis: gamtos ir gyvybės mokslų perspektyvos: 2016 m. jaunųjų mokslininkų konferencijos pranešimų santraukos : [2016 m. gruodžio 7 d., Vilnius] / Lietuvos mokslų akademijos Biologijos, medicinos ir geomokslų skyrius. Vilnius : Lietuvos mokslų akademijos leidykla. 2016, p. 8. Prieiga per internetą: <http://mail.ma.lt/components/com_rseventspro/assets/images/files/2016-12-07_JMK_pranesimu_santrauka.pdf> [žiūrėta 2017-08-07].

2015
1 Mayr, J. A.; Burnytė, Birutė; Šnarienė, R.; Feichtinger, R. G.; Zimmermann, F. A.; Lunzer, V.; Wortmann, S. B.; Baškirova, Inga; Drazdienė, Nijolė; Utkus, Algirdas; Sperl, W. Lactic acidosis and neonatal death in patient with deficiency of the E2 subunit of the pyruvate dehydrogenase complex // Journal of inherited metabolic disease: SSIEM 2015: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France,1-4 September 2015. Dordrecht : Springer. ISSN 0141-8955. eISSN 1573-2665. 2015, Vol. 38, iss. 1, suppl, p. 201. DOI: 10.1007/s10545-015-9877-x. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.541; AIF: 4.066; Q2 (2015 InCities JCR SCIE)]
2 Batkovskytė, Dominyka; Ginevičienė, Valentina; Utkus, Algirdas; Tubelis, Linas. Variation in the myostatin gene in Lithuanian elite athletes // Sport science for sports practice and teacher's training : 8th conference of Baltic society of sport sciences : abstracts : April 22-24, 2015 Vilnius, Lithuania. Vilnius : Lietuvos edukologijos universiteto leidykla, 2015. ISBN 9789955209881. P. 24-25.
3 Pranckevičienė, Erinija; Ginevičienė, Valentina; Milašius, Kazys; Utkus, Algirdas. Decision tree learning rules to associate athletes phenotypes with genotypes in different sports // Sport science for sports practice and teacher's training : 8th conference of Baltic society of sport sciences : abstracts : April 22-24, 2015 Vilnius, Lithuania. Vilnius : Lietuvos edukologijos universiteto leidykla, 2015. ISBN 9789955209881. P. 165-166.
4 Tumienė, Birutė; Songailienė, Jurgita; Preikšaitienė, Eglė; Čiuladaitė, Živilė; Bandanskytė, Aušra; Kučinskas, Vaidutis; Utkus, Algirdas. Chromosomal aberrations mimicking mitochondrial disorders // Journal of inherited metabolic disease. Dordrecht : Springer. 2015, Vol. 38, suppl. 1, p. 214. Prieiga per internetą: <http://download.springer.com/static/pdf/392/art%253A10.1007%252Fs10545-015-9877-x.pdf?originUrl=http%3A%2F%2Flink.springer.com%2Farticle%2F10.1007%2Fs10545-015-9877-x&token2=exp=1443181271~acl=%2Fstatic%2Fpdf%2F392%2Fart%25253A10.1007%25252Fs10545-015-9877-x.pdf%3ForiginUrl%3Dhttp%253A%252F%252Flink.springer.com%252Farticle%252F10.1007%252Fs10545-015-9877-x*~hmac=9d3493d59b7acbef4df29d7a4d69beee2ae079cabc2d6721b2898bac59ebabb0> [žiūrėta 2015-09-25]. [DB: TOC Premier, MEDLINE, CSA (nenaudotinas), CAB Abstracts, Scopus, Science Citation Index Expanded (Web of Science)]
5 Tumienė, Birutė; Utkus, Algirdas. Algorithms for epilepsy genetic testing // Eesti Arst = Estonian Medical journal : 13th International Conference of Baltic Child Neurology Association : May 13-16, 2015, Tartu : [Abstrakt]. Tartu : Eesti Arstide Liit. ISSN 0235-8026. 2015, suppl. 1, p. 53. [DB: INIS Atomindex (nenaudotinas), Scopus]
6 Aleksiūnienė, Beata; Matulevičiūtė, Rugilė; Čiuladaitė, Živilė; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Coarctation of aorta with dysmorphic features in a patient with triplication of 15q26.1-q26.3: clinical and molecular analysis // Twenty-sixth European meeting on dysmorphology, 9-11 September 2015, Strasbourg, France. Strassbourg : EuroDysmorpho. 2015, p. 27.
7 Matulevičienė, Aušra; Aleksiūnienė, Beata; Tamulienė, Laima; Liubšys, Arūnas; Čiuladaitė, Živilė; Utkus, Algirdas; Kučinskas, Vaidutis. A novel de novo dup (4) (q28.2-qter) & del (8) (pter-p23.1) due to unbalanced translocation in a girl: clinical and molecular analysis // Twenty-sixth European meeting on dysmorphology, 9-11 September 2015, Le Bischenberg. Le Bischenberg. 2015, p. 28.
8 Ginevičienė, Valentina; Pranckevičienė, Erinija; Tubelis, Linas; Utkus, Algirdas. Gene variants related to the sprint/power performance of the Lithuanian elite athletes // European Journal of Sports Medicine. Ankara : European Federation of Sports Medicine Associations. eISSN 1792-4979. 2015, Vol. 3, suppl. 1, p. 85-86. Prieiga per internetą: <http://www.eujsm.com/index.php/EUJSM/article/view/108/42> [žiūrėta 2015-10-27].
9 Tumienė, Birutė; Maver, Aleš; Peterlin, Borut; Kučinskas, Vaidutis; Utkus, Algirdas. Dissection of genetic architecture of epilepsies through exome sequencing studies // Interdisciplinary Nature of Contemporary Morphology : The 8th Baltic Morphology Scientific Conference, 12-14th of November, 2015. Vilnius : Vilniaus universiteto leidykla. 2015, p. 67.
10 Batkovskytė, Dominyka; Ginevičienė, Valentina; Utkus, Algirdas; Milašius, Kazys; Tubelis, Linas. Miostatino geno variantų įtaka Lietuvos sportininkų fiziniam pajėgumui // Laboratorinė medicina = Laboratory medicine. ISSN 1392-6470. 2015, T. 17, nr. 3, p. 103-109. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/505/2015>. [DB: Index Copernicus]
11 Utkus, Algirdas. Development, evolution and dysmorphology // Interdisciplinary Nature of Contemporary Morphology : The 8th Baltic Morphology Scientific Conference, 12-14th of November, 2015. Vilnius : Vilniaus universiteto leidykla. 2015, p. 35.
12 Tumienė, Birutė; Maver, A.; Peterlin, B.; Kučinskas, Vaidutis; Utkus, Algirdas. Molecular pathology of monogenic epilepsies // 7th Conference of Lithuanian Neuroscience Association, 27 November 2015, Vilnius : program and abstracts. Vilnius : Vilniaus universiteto leidykla, 2015. ISBN 9786094596056. p. 27.
13 Pranckevičienė, Erinija; Ambrozaitytė, Laima; Uktverytė, Ingrida; Utkus, Algirdas; Kučinskas, Vaidutis. Galaxy in teaching computational methods of genome analysis for master degree students in Medical Genetics program at the Faculty of Medicine, Vilnius University // Galaxy Community Conference 2015, 6-8th July 2015, Norwich, UK : posters. Norwich. 2015, Art. No. P05. Prieiga per internetą: <http://gcc2015.tsl.ac.uk/Posters/> [žiūrėta 2015-12-16].
14 Mikštienė, Violeta; Preikšaitienė, Eglė; Utkus, Algirdas. Paveldimas klausos sutrikimas. Genetiniai veiksniai kurtumo etiopatogenezėje = Hereditary hearing loss. Genetic factors in ethiopathogenesis of deafness // Medicinos teorija ir praktika. Vilnius : Medicinos mintis. ISSN 1392-1312. 2015, T. 21, Nr. 1, p. 55-64. [DB: Index Copernicus]
15 Tumienė, Birutė; Marcinkutė, Rūta; Utkus, Algirdas; Verkauskienė, Rasa; Kučinskas, Vaidutis. Evidence for mitochondrial dysfunction in Prader-Willi syndrome // Laboratorinė medicina = Laboratory medicine. Vilnius : Lietuvos laboratorinės medicinos draugija : Lietuvos žmogaus genetikos draugija. ISSN 1392-6470. 2015, t. 17, Nr. 1(65), p. 37-42. [DB: Index Copernicus]
16 Mikštienė, Violeta; Songailienė, Jurgita; Byčkova, Jekaterina; Rutkauskienė, Giedrė; Jašinskienė, Edita; Verkauskienė, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas. Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified // American journal of medical genetics. Part A. Hoboken, NJ : Wiley-Blackwell. ISSN 1552-4825. 2015, vol. 167A, no. 7, p. 1605-1609. DOI: 10.1002/ajmg.a.37015. [DB: Scopus, Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 2.082; AIF: 4.104; Q3 (2015 InCities JCR SCIE)]
17 Averjanovaitė, Vaida; Baliutavičiūtė, Eglė; Preikšaitienė, Eglė; Utkus, Algirdas. Žmogaus chromosomų skaičiaus ir struktūros pokyčių įvairovės įvertinimas = Evaluation of the variety of numerical and structural chromosomal aberrations in humans // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2015, T. 17, nr. 4, p. 153-159. Prieiga per internetą: <http://zurnalas.llmd.lt/lt/straipsnis/zmogaus-chromosomu-skaiciaus-ir-strukturos-pokyciu-ivairoves-ivertinimas> [žiūrėta 2016-03-30].
18 Tumienė, Birutė; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Utkus, Algirdas; Kučinskas, Vaidutis. Array CGH for the investigation of epilepsy // European journal of neurology. Chichester : Wiley-Blackwell Publishing Ltd. ISSN 1351-5101. 2015, Vol. 22, suppl. 1, p. 547. DOI: 10.1111/ene.12808. [IF: 3.956; AIF: 3.543; Q1 (2015 InCities JCR SCIE)]
19 Alasevičius, Tomas; Skerlienė, Birutė; Poluziorovienė, Edita; Basys, Vytautas; Utkus, Algirdas; Valiulis, Arūnas. Alfa-1 antitripsinas: istoriniai aspektai, funkcijos, reikšmė vaikų kvėpavimo takų sveikatai = Alpha-1 antitrypsin: historical implications, functions, importance for respiratory health of children // Vaikų pulmonologija ir alergologija. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-5261. 2015, T. 18, Nr. 2, p. 27-33. Prieiga per internetą: <http://www.pediatrija.org/multisites/pediatrija/images/stories/pdf/zurnalas/2015_2/vaiku%20alergologija%20ir%20pulmonologija_2015-2.pdf> [žiūrėta 2017-11-06]. [DB: Index Copernicus]
20 Preikšaitienė, Eglė; Krasovskaja, Natalija; Utkus, Algirdas; Kasnauskienė, Jūratė; Meškienė, Danutė; Paulauskienė, Iveta; Valevičienė, Nomeda Rima; Kučinskas, Vaidutis. R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome // Clinical dysmorphology. Philadelphia : Lippincott Williams & Wilkins. ISSN 0962-8827. 2015, Vol. 24, iss. 1, p. 7-12. DOI: 10.1097/MCD.0000000000000059. [DB: Embase, PubMed, Scopus, MEDLINE, ISI Web of Science (nenaudotinas)] [IF: 0.518; AIF: 4.104; Q4 (2015 InCities JCR SCIE)]
21 Stavusis, Janis; Inashkina, I; Jankevics, E; Radovica, I; Micule, I; Strautmanis, J; Naudina, M.S; Utkus, Algirdas; Burnytė, Birutė; Lace, Baiba. CAV3 gene sequence variations: National genome database and clinics // Acta neurologica Scandinavica. Malden : Wiley-Blackwell Publishing. ISSN 0001-6314. 2015, vol. 132, iss. 3, p. 185-190. DOI: 10.1111/ane.12369. [DB: MEDLINE, Biological Abstracts, BIOSIS Previews, Current Contents, Science Citation Index Expanded (Web of Science)] [IF: 2.559; AIF: 3.186; Q2 (2015 InCities JCR SCIE)]
22 Čiuladaitė, Živilė; Burnytė, Birutė; Vansevičiūtė, Danutė; Dagytė, Evelina; Kučinskas, Vaidutis; Utkus, Algirdas. Clinical, cytogenetic and molecular study of a case of ring chromosome 10 // Molecular cytogenetics. London : BioMed Central Ltd. ISSN 1755-8166. 2015, Vol. 8, art. no. 29, p. [1-6]. DOI: 10.1186/s13039-015-0124-9. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 1.506; AIF: 4.104; Q4 (2015 InCities JCR SCIE)]
23 Burnytė, Birutė; Kapitanova, Natalija; Uktverytė, Ingrida; Utkus, Algirdas. Naujos kartos genetiniai tyrimai, diagnozuojant paveldimas periferines neuropatijas = Next-generation sequencing in the diagnosis of hereditary peripheral neuropathies // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2015, t. 19, nr. 1, p. 13-18. Prieiga per internetą: <http://www.neuroseminarai.lt/wp-content/uploads/2017/02/Neuro_2015_Nr1_013-018.pdf>. [DB: Index Copernicus]
24 Stavusis, Janis; Inashkina, I.; Jankevics, E.; Radovica, I.; Micule, I.; Strautmanis, J.; Naudina, M.S.; Utkus, Algirdas; Burnytė, Birutė; Lace, B. Variations in LGMD genes CAV3 and FKRP // Eesti arst. Tartu : Eesti Arstide Liit. ISSN 0235-8026. eISSN 2228-1665. 2015, suppl. 1, p. 21. [DB: INIS Atomindex (nenaudotinas), Scopus]
25 Zabulienė, Lina; Bagdžiūnienė, Airida Audronė; Burnytė, Birutė; Janavičius, Ramūnas; Urbonienė, Jurgita; Utkus, Algirdas. The Ehlers-Danlos syndrome and metastatic medullary thyroid carcinoma: a case report // Endocrine abstracts: 17th European Congress of Endocrinology 2015, 16-20 May 2015, Dublin, Ireland. Bristol : BioScientifica. ISSN 1470-3947. eISSN 1479-6848. 2015, Vol. 37, Abstract no. EP1310, p. 528. DOI: 10.1530/endoabs.37.EP1310.
26 Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Preikšaitienė, Eglė; Utkus, Algirdas. Išorinės ausies dismorfologinis vertinimas klinikinėje genetikoje = Dysmorphic assessment of the auricle in the clinical genetics // Pediatrija. Vilnius : UAB "Baltijos idėjų grupė" ir partneriai. ISSN 1648-4630. 2015, nr. 2, p. 37-42.
27 Čiuladaitė, Živilė; Preikšaitienė, Eglė; Utkus, Algirdas; Kučinskas, Vaidutis. A deletion at 4p15.2 and disruption of PITX2 gene due to pericentric inversion in a patient with Axenfeld-Rieger syndrome and developmental delay // European journal of human genetics: European human genetics conference joint with the British Society of Genetics Medicine, June 6 - 9, 2015, Glasgow, Scotland, United Kingdom : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 271. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
28 Preikšaitienė, Eglė; Čiuladaitė, Živilė; Tumienė, Birutė; Utkus, Algirdas; Kučinskas, Vaidutis. Clinical and molecular delineation of the emerging 10q22.1q22.3 microdeletion syndrome // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 409. [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
29 Vansevičiūtė, Danutė; Čiuladaitė, Živilė; Tumienė, Birutė; Utkus, Algirdas; Kučinskas, Vaidutis. De novo case of a mosaic ring supernumerary marker chromosome leading to trisomy of 8p11.22-q11.23 in a boy with development delay and corpus callosum hypoplasia // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 417. [DB: MEDLINE, EBSCOHost (nenaudotinas), Science Citation Index Expanded (Web of Science)] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
30 Burnytė, Birutė; Uktverytė, Ingrida; Vaitkevičius, Arūnas; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Utkus, Algirdas. GJB1 gene mutation c.34G>A in a Lithuanian family // European journal of human genetics: European human genetics conference joint with the British Society of Genetics Medicine, June 6 - 9, 2015, Glasgow, Scotland, United Kingdom : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2015, vol. 23, Supplement 1, p. 422. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
31 Ginevičienė, Valentina; Jakaitienė, Audronė; Tubelis, Linas; Utkus, Algirdas. Do metabolic disease genes SNPs affect elite sports performance? // European journal of human genetics: European Human Genetics Conference joint with the British Society of Genetics Medicine, June 6 - 9, 2015, Glasgow, Scotland, United Kingdom : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, supplement 1, p. 303. [DB: MEDLINE] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
32 Mikštienė, Violeta; Byčkova, Jekaterina; Gradauskienė, Eglė; Lesinskas, Eugenijus; Utkus, Algirdas. The contribution of GJB2 gene mutations to development of early onset hearing loss in affected group of patients in Lithuanian population // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 78. [DB: MEDLINE, EBSCOHost (nenaudotinas), Science Citation Index Expanded (Web of Science)] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]

2014
1 Matulevičienė, Aušra; Aleksiūnienė, Beata; Mikštienė, Violeta; Krasovskaja, Natalija; Griškevičius, Laimonas; Utkus, Algirdas; Kučinskas, Vaidutis. Dup (1) (q43–q44) & del (21) (q22.2–q22.3) characterized by facial dysmorphism, congenital heart defect and mental retardation // Twenty-fifth European Meeting on Dysmorphology, 10-12 September 2014, Strasbourg, France. Strassbourg : EuroDysmorpho. 2014, p. 45.
2 Tumienė, Birutė; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Kučinskas, Vaidutis; Utkus, Algirdas. The role of molecular karyotyping in the investigation of epilepsy patients // 6th Conference of Lithuanian Neuroscience Association : program and abstracts : 5 December, 2014, Vilnius / Lithuanian Neuroscience Association. Vilnius : Lithuanian Neuroscience Association. 2014, p. 39. Prieiga per internetą: <http://www.neuromokslai.lt/files/uploaded/pranesimu-medziaga-lna-conference-2014-final.pdf> [žiūrėta 2016-01-15].
3 Mikštienė, Violeta; Songailienė, Jurgita; Byčkova, Jekaterina; Rutkauskienė, Giedrė; Jasinskienė, E; Verkauskienė, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas. 3D microporous scaffolds manufactured via combination of fused filament: the success of multidisciplinary approach // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 138-139. [DB: MEDLINE] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
4 Guillen-Navarro, Encarna; Ballesta-Martinez, Maria Juliana; Valencia, Maria; Bueno, Ana Maria; Martinez-Glez, Victor; Lopez-Gonzales, Vanesa; Burnytė, Birutė; Utkus, Algirdas; Lapunzina, Pablo; Ruiz-Perez, Victor L. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta // American journal of medical genetics. Part A. Hoboken, NJ : Wiley-Blackwell Publishing. ISSN 1552-4825. eISSN 1552-4833. 2014, Vol. 164, Iss. 5, p. 1136-1142. DOI: 10.1002/ajmg.a.36409. [DB: BIOSIS Previews, MEDLINE, Science Citation Index Expanded (Web of Science), Wiley InterScience] [IF: 2.159; AIF: 4.263; Q3 (2014 InCities JCR SCIE)]
5 Preikšaitienė, Eglė; Molytė, Alma; Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Utkus, Algirdas; Patsalis, Philippos C.; Kučinskas, Vaidutis. Considering specific clinical features as evidence of pathogenic copy number variants // Journal of applied genetics. Heidelberg : Springer. ISSN 1234-1983. 2014, vol. 55, iss. 2, p. 189-196. DOI: 10.1007/s13353-014-0197-x. [DB: Embase, Scopus, BIOSIS Previews, Science Citation Index Expanded (Web of Science)] [IF: 1.477; AIF: 3.765; Q3 (2014 InCities JCR SCIE)]
6 Aleksiūnienė, Beata; Utkus, Algirdas; Tarutis, Virgilijus. Įgimtos širdies ydos: genetinė etiologija ir diagnostika // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2014, vol. 24, nr. 2, p. 105-112. DOI: 10.5200/sm-hs.2014.033. [DB: Index Copernicus]
7 Ginevičienė, Valentina; Drozdovska, S.B.; Tubelis, Linas; Utkus, Algirdas. The association of candidate gene polymorphisms with athlete status in the Lithuanian and Ukrainian cohorts // Acta Kinesiologiae Universitatis Tartuensis. Tartu : Tartu University Press. ISSN 1406-9822. 2014, Vol. 20, suppl. p. 89.
8 Valiulis, Arūnas; Utkus, Algirdas; Stukas, Rimantas; Valiulis, Algirdas; Siderius, Liesbeth. Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin deficiency in Central Eastern Europe // Prilozi - Makedonska akademija na naukite i umetnostite, Oddelenie za lingvistika i literaturna nauka. = Contributions - Macedonian Academy of Sciences and Arts, Section of Linguistics and Literary Sciences. Skopje : Makedonska akademija na naukite i umetnostite. ISSN 0350-1914. 2014, vol. 35, no. 1, p. 107-114. Prieiga per internetą: <http://manu.edu.mk/prilozi/5av.pdf> [žiūrėta 2014-06-16]. [DB: MLA: International Bibliography]
9 Dlugauskas, Edgaras; Utkus, Algirdas; Danilevičiūtė, Vita. Citochromų P450 įtaka psichofarmakoterapinių vaistų klinikiniam efektyvumui // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2014, t. 18, nr. 2, p. 113-120. Prieiga per internetą: <http://www.neuroseminarai.lt/uploads/Neuro_2014_Nr2_113-120.pdf> [žiūrėta 2014-11-27]. [DB: Index Copernicus]
10 Preikšaitienė, Eglė; Utkus, Algirdas; Kučinskas, Vaidutis. Exon skipping mutation in collagen VI detected in a patient from Lithuania // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 204. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf> [žiūrėta 2014-11-11]. [DB: MEDLINE, Ebsco (nenaudotinas), Science Citation Index Expanded (Web of Science)] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
11 Čiuladaitė, Živilė; Liaugaudienė, Olga; Utkus, Algirdas; Kučinskas, Vaidutis. An alternate unbalanced recombinants of chromosome 10 due to familial pericentric inversion // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 230-231. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf> [žiūrėta 2014-11-11]. [DB: MEDLINE, Ebsco (nenaudotinas), Science Citation Index Expanded (Web of Science)] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
12 Ginevičienė, Valentina; Olšauskaitė, Giedrė; Tubelis, Linas; Utkus, Algirdas. The association of PPARD and PPARA gene variants with physical performance in Lithuanian elite athletes // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 506. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf> [žiūrėta 2014-11-11]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, Ebsco (nenaudotinas), ISI Web of Science (nenaudotinas)] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
13 Kapitanova, N.; Čiuladaitė, Živilė; Burnytė, Birutė; Utkus, Algirdas. Clinical characterization of a patient with mosaic microdeletion 7q36.1-qter // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 450. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf> [žiūrėta 2014-11-11]. [DB: MEDLINE, Ebsco (nenaudotinas), ISI Web of Science (nenaudotinas)] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
14 Liaugaudienė, Olga; Utkus, Algirdas; Čiuladaitė, Živilė; Preikšaitienė, Eglė. A report of partial monosomy of distal 5p and partial trisomy of distal 19q in a family with Charcot-Marie-Tooth disease // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 449. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf> [žiūrėta 2014-11-11]. [DB: MEDLINE, Ebsco (nenaudotinas), ISI Web of Science (nenaudotinas)] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
15 Dirsė, Vaidas; Burnytė, Birutė; Gineikienė, Eglė; Griškevičius, Laimonas; Utkus, Algirdas. A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation // Journal of genetics. Bangalore : Indian Academy of Sciences. ISSN 0022-1333. 2014, vol. 93, no. 2, p. 501-503. DOI: 10.1007/s12041-014-0369-9. [DB: MEDLINE, ProQuest (nenaudotinas), PubMed, Scopus, EBSCOHost (nenaudotinas), CABI Abstracts Databases, ISI Web of Science (nenaudotinas)] [IF: 1.093; AIF: 4.263; Q4 (2014 InCities JCR SCIE)]
16 Šliužas, Vytautas; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Utkus, Algirdas. Implication of cytogenetic methods in to clinical cytogenetic diagnostics: a case report // Journal of international education for clinical chemistry and laboratory medicine. Riga : Society IECCLM. ISSN 2256-0092. 2014, vol. 1, no. 1, p. 44. Prieiga per internetą: <http://www.iecclm.org/abstr_book.pdf> [žiūrėta 2014-09-30].
17 Kempa, Inga; Ambrozaitytė, Laima; Stavusis, Janis; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis; Lace, Baiba. Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations // Stomatologija / Lietuvos bendrosios praktikos gydytojų stomatologų draugija ir Lietuvos stomatologų sąjunga. Kaunas : Lietuvos bendrosios praktikos gydytojų stomatologų draugija. ISSN 1392-8589. 2014, t. 16, nr. 3, p. 94-101. Prieiga per internetą: <http://www.sbdmj.com/143/143-03.pdf> [žiūrėta 2014-10-24]. [DB: Scopus, MEDLINE]
18 Ginevičienė, Valentina; Jakaitienė, Audronė; Utkus, Algirdas; Kučinskas, Vaidutis; Tubelis, Linas. The effect of genetic variants on muscular performance and sprint/power phenotype // Постгеномные методы анализа в биологии, лабораторной и клинической медицине : сборник трудов IV международной научно-практической конференции, Казань, Россия, 29 октября - 1 ноября 2014. Казань, 2014. ISBN 9875000192931. p. 288-289. Prieiga per internetą: <http://postgenome.ru/abstracts/proceedings_postgenome2014.pdf> [žiūrėta 2014-11-06].
19 Mikštienė, Violeta; Songailienė, Jurgita; Byčkova, Jekaterina; Rutkauskienė, Giedrė; Jašinskienė, Edita; Verkauskienė, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas. Rogers syndrome (thiamine responsive megaloblastic anemia syndrome): the first case in Lithuania // 6th Baltic ENT Congress [elektronins išteklius – CD] : 22nd- 24th May, 2014, Kaunas, Lithuania : Programme and Abstract Book / Lithuanian Otorhinolaryngological Society ; Organizing Committee: Virgilijus Uloza (President), E. Lesinskas, J. Sokolovs, M. Metsmaa. Kaunas : Lithuanian Otorhinolaryngological Society. 2014, p. 98. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts.pdf> [žiūrėta 2014-11-11].
20 Mikštienė, Violeta; Songailienė, Jurgita; Byčkova, Jekaterina; Rutkauskienė, Giedrė; Jašinskienė, Edita; Verkauskienė, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas. Rogers syndrome (thiamine responsive megaloblastic anemia syndrome): the success of multidisciplinary approach // European journal of human Genetics : ESHG - European Human Genetics Conference 2014 : May 31-June 3, 2014 Milan, Italy : Abstracts / European Society of Human Genetics ; Scientific Programme Committee: Brunhilde Wirth (Chair), et al. London : Nature Publishing Group. ISSN 1018-4813. 2014, vol. 22, suppl. 1, May, p. 138-139, no. P06.56-M. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts.pdf>. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
21 Ginevičienė, Valentina; Jakaitienė, Audronė; Pranculis, Aidas; Milašius, Kazys; Tubelis, Linas; Utkus, Algirdas. AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes // BMC genetics. London : BioMed Central Ltd. ISSN 1471-2156. 2014, Vol. 15, Art. no. 58, p. 1-9. DOI: 10.1186/1471-2156-15-58. [DB: Science Citation Index Expanded (Web of Science), Zoological Record, BIOSIS Previews, CABI Abstracts Databases, Scopus, PubMed, MEDLINE, Embase] [IF: 2.397; AIF: 4.263; Q3 (2014 InCities JCR SCIE)]
22 Čiuladaitė, Živilė; Preikšaitienė, Eglė; Utkus, Algirdas; Kučinskas, Vaidutis. Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion // Cytogenetic and Genome Research. Basel : S. Karger AG. ISSN 1424-8581. 2014, Vol. 144, no. 2, p. 109-113. DOI: 10.1159/000368863. [DB: Embase, Scopus, MEDLINE, ProQuest (nenaudotinas), EBSCOHost (nenaudotinas), CSA (nenaudotinas), CABI Abstracts Databases, ISI Web of Science (nenaudotinas)] [IF: 1.561; AIF: 5.021; Q4 (2014 InCities JCR SCIE)]
23 Tumienė, Birutė; Utkus, Algirdas. Epileptogenic malformations of cortical development: when evolution goes awry // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. 2014, vol. 21, nr. 3, p. 103-108. DOI: 10.6001/actamedica.v21i3.2993. [DB: TOC Premier, Current Abstracts, Index Copernicus]
24 Tumienė, Birutė; Utkus, Algirdas; Kučinskas, Vaidutis. Imprinting and its disorders in evolutionary perspective // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. 2014, vol. 21, nr. 3, p. 109-115. DOI: 10.6001/actamedica.v21i3.2994. [DB: TOC Premier, Current Abstracts, Index Copernicus]
25 Utkus, Algirdas; Cimbalistienė, Loreta. Sindromologija II / Algirdas Utkus, Loreta Cimbalistienė. Vilnius : Vilniaus universiteto leidykla, 2014. 134 p. ISBN 9786094171079.

2013
1 Ginevičienė, Valentina; Jakaitienė, Audronė; Milašius, Kazys; Tubelis, Linas; Kučinskas, Vaidutis; Utkus, Algirdas. Variation of the HIF1A and MB genes in Lithuanian athletes // 18th annual congress of the European college of sport science : book of abstracts, 26th-29th June 2013, Barcelona, Spain. Barcelona : European college of sport science, 2013. ISBN 9788469577868. P. 132-133.
2 Ginevičienė, Valentina; Jakaitienė, Audronė; Pranculis, Aidas; Milašius, Kazys; Tubelis, Linas; Kučinskas, Vaidutis; Utkus, Algirdas. The myoglobin gene A79G polymorphism in Lithuanian athletes // Sport science for sustainable society : 6th Baltic Scientific Conference, April 23-25, 2013, Riga, Latvia : abstracts. Riga : Baltic Sport Science Society, 2013. ISBN 9789984920467. p. 161-162.
3 Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Utkus, Algirdas; Pečiulytė, Agnė; Kučinskas, Vaidutis. A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability // American journal of medical genetics. Part A. New York : Wiley-Liss, Inc. ISSN 1552-4825. 2013, Vol. 161, iss. 6, p. 1487-1490. DOI: 10.1002/ajmg.a.35911. [DB: BIOSIS Previews, MEDLINE, Science Citation Index Expanded (Web of Science), Wiley InterScience] [IF: 2.048; AIF: 4.463; Q3 (2013 InCities JCR SCIE)]
4 Burnytė, Birutė; Ambrozaitytė, Laima; Utkus, Algirdas. Juvenile Huntington disease: case report // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2013, t. 17, priedas nr. 1, p. s43. Prieiga per internetą: <http://www.neuroseminarai.lt/wp-content/uploads/2017/02/Neuro_2013_Priedas_Nr1_28-52.pdf> [žiūrėta 2013-09-25]. [DB: Index Copernicus]
5 Morkūnienė, Aušra; Matulevičienė, Aušra; Ambrozaitytė, Laima; Meškienė, Raimonda; Meškauskas, Raimundas; Utkus, Algirdas. Frame shift mutation of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 82. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
6 Cimbalistienė, Loreta; Liaugaudienė, Olga; Utkus, Algirdas. Familial case of c.413T>C PHEX gene mutation leading to X-linked hypophosphatemic rickets // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 520. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
7 Burnytė, Birutė; Brusokienė, Gražina; Čiuladaitė, Živilė; Drazdienė, Nijolė; Utkus, Algirdas. Ring chromosome 6 in an infant with multiple congenital anomalies // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 485. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
8 Preikšaitienė, Eglė; Molytė, Alma; Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Utkus, Algirdas; Kučinskas, Vaidutis. Phenomic clues to genomic variation in patients with developmental delay or intellectual disability // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 176. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
9 Ginevičienė, Valentina; Jakaitienė, Audronė; Milašius, Kazys; Tubelis, Linas; Kučinskas, Vaidutis; Utkus, Algirdas. Association of hypoxia inducible factor-1 alpha gene polymorphism with physical performance in Lithuanian athletes // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 392. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
10 Matulevičienė, Aušra; Preikšaitienė, Eglė; Linkevičienė, Laura; Radavičius, Marijus; Molytė, Alma; Utkus, Algirdas; Kučinskas, Vaidutis. Heterogeneity of oral clefts in relation to associated congenital anomalies // Medicina. Kaunas : Kauno medicinos universitetas. ISSN 1010-660X. 2013, t. 49, nr. 2, p. 61-66. Prieiga per internetą: <http://medicina.lsmuni.lt/med/1302/1302-03e.htm> [žiūrėta 2013-08-26]. [DB: MEDLINE, DOAJ, Index Copernicus, Science Citation Index Expanded (Web of Science)] [IF: 0.508; AIF: 4.036; Q4 (2013 InCities JCR SCIE)]
11 Anisko, S.; Utkus, Algirdas; Miglinas, Marius. Scientific research on rare diseases // Nacionalinių veiklos, susijusios su retomis ligomis, planų ir strategijų įgyvendinimo aktualijos = The national activities related to rare diseases : programa ir tezės, 2013.11.14, Vilnius. Kaunas : LSMU leidybos namai. 2013, p. 35.
12 Cimbalistienė, Loreta; Ambrozaitytė, Laima; Smirnova, Marija; Utkus, Algirdas. Algorithm for identifying, diagnostic and management of hyperphenylalaninemia (HPA) in Lithuania // Nacionalinių veiklos, susijusios su retomis ligomis, planų ir strategijų įgyvendinimo aktualijos = The national activities related to rare diseases : programa ir tezės, 2013.11.14, Vilnius. Kaunas : LSMU leidybos namai. 2013, p. 21.
13 Tumienė, Birutė; Preikšaitienė, Eglė; Utkus, Algirdas; Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Šliužas, Vytautas; Lankutis, Kęstutis; Patsalis, Philippos C.; Kučinskas, Vaidutis. Old and new cytogenetics in the evaluation of intellectual disabilities/developmental delays // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2013, t. 17, priedas nr. 1, p. s31. [DB: Index Copernicus]
14 Miglinas, Marius; Šerpytis, Pranas; Gargalskaitė, Urtė; Danieliūtė, justė; Utkus, Algirdas. Fabry nefropatija // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2013, Vol. 23, nr. 6, p. 82-87. Prieiga per internetą: <https://sam.lrv.lt/uploads/sam/documents/files/Veiklos_sritys/Sveikatos_mokslai/Moksliniai_straipsniai%E2%80%93zurnalas_Sveikatos%20mokslai/2013m/2013SM61118Internetui.pdf> [žiūrėta 2014-02-26]. [DB: Index Copernicus]
15 Šerpytis, Pranas; Petrulionienė, Žaneta; Badarienė, Jolita; Gargalskaitė, Urtė; Danieliūtė, Justė; Utkus, Algirdas. Fabry kardiomiopatija // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2013, Vol. 23, nr. 6, p. 76-81. DOI: 10.5200/sm-hs.2013.136. [DB: Index Copernicus]
16 Valiulis, Arūnas; Skurvydienė, Iveta; Misevičienė, Valdonė; Kasnauskienė, Jūratė; Vaidelienė, Laimutė; Utkus, Algirdas. Relevance of nasal potential difference in diagnosis of cystic fibrosis among children // Medicina. Kaunas : Lietuvos sveikatos mokslų universitetas. ISSN 1010-660X. 2013, t. 49, Nr. 4, p. 185-190. Prieiga per internetą: <http://medicina.lsmuni.lt/med/1304/1304-05e.pdf> [žiūrėta 2016-02-10]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, Index Copernicus, Scopus] [IF: 0.508; AIF: 4.036; Q4 (2013 InCities JCR SCIE)]
17 Cimbalistienė, Loreta; Ambrozaitytė, Laima; Meškienė, Raimonda; Smirnova, Marija; Blau, N.; Utkus, Algirdas. Tetrahydrobiopterin (BH4) deficiency in Lithuanian newborn screening // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2013, vol. 36, suppl. 2, p. s116. [DB: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, VINITI, MEDLINE] [IF: 4.138; AIF: 4.280; Q1 (2013 InCities JCR SCIE)]
18 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Utkus, Algirdas; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pečiulytė, Agnė; Kučinskas, Vaidutis. Two new de novo interstitial duplications covering 2p14–p22.1: clinical and molecular analysis // Cytogenetic and genome research. Basel : S. Karger AG. ISSN 1424-8581. 2013, Vol. 139, no. 1, p. 52-58. DOI: 10.1159/000342544. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, MEDLINE, Scopus, Embase] [IF: 1.905; AIF: 5.140; Q3 (2013 InCities JCR SCIE)]

2012
1 Byčkova, Jekaterina; Gradauskienė, Egllė; Lesinskas, Eugenijus; Mikštienė, Violeta; Utkus, Algirdas. Ankstyvi kochlearinės implantacijos rezultatai vaikams = Early outcomes of cochlear implantation in children // Sveikatos mokslai. Vilnius : Sveikatos mokslai. ISSN 1392-6373. eISSN 2335-867X. 2012, T. 22, nr. 6, p. 140-145. Prieiga per internetą: <http://sm-hs.eu/index.php/smhs/article/view/401> [žiūrėta 2018-03-22]. [DB: Index Copernicus]
2 Burnytė, Birutė; Utkus, Algirdas; Dirsė, Vaidas; Kučinskas, Vaidutis. Rubinšteino-Teibi sindromas - nuo protinio atsilikimo genetinių priežasčių iki išsamios klinikinės analizės: atvejo pristatymas = Rubinstein-Taybi syndrome - from genetic basis of mental retardation till clinical genetic evaluation: a case report // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2012, vol. 22, nr. 1, p. 78-81. Prieiga per internetą: <http://sm-hs.eu/index.php/smhs/article/view/253/pdf_1> [žiūrėta 2012-02-02]. [DB: Index Copernicus]
3 Preikšaitienė, Eglė; Utkus, Algirdas; Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. Genetinės diagnozės nustatymas esant intelektinei negaliai: Phelan-McDermid sindromo pavyzdys = Establishing the genetic diagnosis in patinets with intelectual disability: a case report of Phelan-McDermid syndrome // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2012, vol. 22, nr. 1, p. 73-77. Prieiga per internetą: <http://sm-hs.eu/index.php/smhs/article/view/252/pdf_1> [žiūrėta 2012-02-02]. [DB: Index Copernicus]
4 Čiuladaitė, Živilė; Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Utkus, Algirdas; Cimbalistienė, Loreta; Matulevičienė, Aušra; Pečiulytė, Agnė; Ambrozaitytė, Laima; Aleksiūnienė, Beata; Dirsė, Vaidas; Kučinskas, Vaidutis. Molekulinis kariotipavimas ir intelektinės negalios genetinės priežastys: klinikiniai atvejai = Molecular karyotyping and genetic etiology of intellectual disability: case reports // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2012, vol. 22, nr. 1, p. 67-72. Prieiga per internetą: <http://sm-hs.eu/index.php/smhs/article/view/251/pdf_1> [žiūrėta 2012-02-02]. [DB: Index Copernicus]
5 Čiuladaitė, Živilė; Utkus, Algirdas; Pečiulytė, Agnė; Kasnauskienė, Jūratė; Preikšaitienė, Eglė; Kučinskas, Vaidutis. A de novo interstitial deletion at 1p36.11 in a patient presenting with severe psychomotor delay, sensoneural hearing loss, congenital heart defect and dysmorphic features // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2012, vol. 20, suppl. 1, p. 112. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.319; AIF: 4.379; Q1 (2012 InCities JCR SCIE)]
6 Burnytė, Birutė; Utkus, Algirdas; Gabriel, H.; Kučinskas, Vaidutis. KID syndrome: multiple joint contractures in Lithuanian patient with GJB2 gene mutation // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2012, vol. 20, suppl. 1, p. 366. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.319; AIF: 4.379; Q1 (2012 InCities JCR SCIE)]
7 Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Utkus, Algirdas; Kučinskas, Vaidutis. Asmenų su intelektine negalia genetinio ištyrimo gairės // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2012, t. 16, nr. 4, p. 283-288. Prieiga per internetą: <http://www.neuroseminarai.lt/wp-content/uploads/2017/02/Neuro_2012_Nr4_283-288.pdf> [žiūrėta 2018-07-23]. [DB: Index Copernicus]
8 Preikšaitienė, Eglė; Männik, K.; Dirsė, Vaidas; Utkus, Algirdas; Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Kurg, A.; Kučinskas, Vaidutis. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features // European Journal of Medical Genetics. Paris : Elsevier Masson. ISSN 1769-7212. 2012, vol. 55, no. 11, p. 656-659. DOI: 10.1016/j.ejmg.2012.07.008. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, GeoRef, Elsevier Biobase, Scopus, Embase] [IF: 1.685; AIF: 4.484; Q4 (2012 InCities JCR SCIE)]

2011
1 Valiulis, Arūnas; Indrėjaitytė, Ieva Laimutė; Misevičienė, Valdonė; Urbonas, Vaidotas; Dumčius, Sigitas; Utkus, Algirdas; Vaidelienė, Laimutė; Skurvydienė, Iveta; Miciulevičienė, Jolanta; Bush, Andrew. Cistinė fibrozė : mokymo knyga studentams ir gydytojams rezidentams. Vilnius : Vilniaus universiteto leidykla, 2011. 72 p. ISBN 9789955336433.
2 Nikopensius, Tiit; Kempa, Inga; Ambrozaitytė, Laima; Jagomägi, Triin; Saag, Mare; Matulevičienė, Aušra; Utkus, Algirdas; Krjutškov, Kaarel; Tammekivi, Veronika; Piekuse, Linda; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Klovins, Janis; Lace, Baiba; Kučinskas, Vaidutis; Metspalu, Andres. Variation in FGF1, FOXE1, and TIMP2genes is associated with nonsyndromic cleft lip with or without cleft palate // Birth defects research. Part. A: Clinical and molecular teratology. Hoboken : John Wiley & Sons INC. ISSN 1542-0752. 2011, Vol. 91, no. 4, p. 218-225. DOI: 10.1002/bdra.20791. [DB: MEDLINE, BIOSIS Previews, Science Citation Index Expanded (Web of Science)]
3 Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Dirsė, Vaidas; Cimbalistienė, Loreta; Utkus, Algirdas; Matulevičienė, Aušra; Tumienė, Birutė; Magini, P.; Baptista, J.; Patsalis, C.; Kurg, A.; Kučinskas, Vaidutis. Clinical features associated with submicroscopic chromosomal aberrations in patients with mental retardation/ developmental delay // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 107. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
4 Dirsė, Vaidas; Kasnauskienė, Jūratė; Utkus, Algirdas; Preikšaitienė, Eglė; Čiuladaitė, Živilė; Männik, K.; Kurg, A.; Kučinskas, Vaidutis. A de novo 1.8Mb 17q21/33 microdeletion detected by SNP-CGH in patient with mental retardation and dysmorphic fetaures // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 132-133. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
5 Jankauskienė, Augustina; Čerkauskienė, Rimantė; Tumienė, Birutė; Utkus, Algirdas; Mornet, E. A combination of mild and severe mutations in ALPL gene causing hypophosphatasia of intermediate type // Pediatric nephrology. Heidelberg : Springer. ISSN 0931-041X. 2011, Vol. 26, no. 9, p. 1673-1674. DOI: 10.1007/s00467-011-1958-y. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, MEDLINE, PubMed, Scopus, Embase] [IF: 2.518; AIF: 2.399; Q1 (2011 InCities JCR SCIE)]
6 Čerkauskienė, Rimantė; Jankauskienė, Augustina; Tumienė, Birutė; Utkus, Algirdas. Fanconi-Bickel syndrome syndrome due to previously not described homozygous mutation in the 10th exon of the SLC2A2 gene // Pediatric nephrology. Heidelberg : Springer. ISSN 0931-041X. 2011, Vol. 26, no. 9, [p. 1673-1673]. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, Scopus, MEDLINE, PubMed, Embase] [IF: 2.518; AIF: 2.399; Q1 (2011 InCities JCR SCIE)]

2010
1 Ališauskas, Jonas; Arlauskienė, Audronė; Balčiūnienė, Irena; Benušienė, Eglė; Bylaitė, Matilda; Budrys, Valmantas; Bumbulienė, Žana; Dembinskas, Algirdas; Domža, Bronius; Drąsutienė, Gražina Stanislava; Drazdienė, Nijolė; Dubakienė, Rūta; Jamontaitė, Ieva Eglė; Juocevičius, Alvydas; Kaladytė Lokominienė, Rūta; Kalibatienė, Danutė; Kasiulevičius, Vytautas; Kašinskas, Romas; Kocius, Manvilius; Krikštopaitytė, Rita; Kučinskas, Vaidutis; Mačiulienė, Kornelija; Manelienė, Rasmutė; Marčiukaitienė, Irena Ona; Mečėjus, Gediminas; Ožeraitienė, Violeta; Pūrienė, Alina; Račkauskienė, Olga; Raugalė, Algimantas; Rizgelienė, Renata; Šilkūnas, Mindaugas; Strupas, Kęstutis; Stukas, Rimantas; Triponienė, Dalia; Triponis, Vytautas Jonas; Tutkuvienė, Janina; Usonienė, Audronė; Utkus, Algirdas; Valevičienė, Nomeda; Vasjanova, Vilma; Vitkus, Kęstutis; Venalis, Algirdas; Zakarevičienė, Jolita; Žiobakas, Rolandas. Akušerija ginekologija šeimos gydytojo praktikoje : antrasis pataisytas ir papildytas leidimas / sudarytoja Gražina Drąsutienė. Vilnius : Vaistų žinios, 2010. 794 p. ISBN 9789955884330.
2 Dirsė, Vaidas; Čiuladaitė, Živilė; Utkus, Algirdas; Männik, K.; Kurg, A.; Kučinskas, Vaidutis. Structural rearrangements of chromosome 8p23.1-p23.3 related to mental retardation // European journal of human genetics : European human genetics conference 2010, Gothenburg, Sweden, 2010, June 12-15 : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2010, vol. 18, suppl. 1, abstract no. P03.074, p. 119. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2010Abstracts.pdf>. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.380; AIF: 4.510; Q1 (2010 InCities JCR SCIE)]
3 Ambrozaitytė, Laima; Uktverytė, Ingrida; Timinskas, Albertas; Utkus, Algirdas; Matulevičienė, Aušra; Kučinskas, Vaidutis. Analysis of the variety of sequence variants of SOS1 gene in cleft lip and/or palate patients of Lithuania // The American Society of Human Genetics 60th Annual Meeting, Nowember 2-6, 2010, Washington : poster abstracts. Washington : American Society of Human Genetics. 2010, p. 295.
4 Kučinskas, Vaidutis; Dirsė, Vaidas; Utkus, Algirdas; Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Männik, K.; Kurg, A. Genome-wide detection of CNVs in Lithuanian patients with mental retardation // The American Society of Human Genetics 60th Annual Meeting, Nowember 2-6, 2010, Washington : poster abstracts. Washington : American Society of Human Genetics. 2010, p. 538.
5 Uktverytė, Ingrida; Ambrozaitytė, Laima; Timinskas, Albertas; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Lūpos ir/ar gomurio nesuaugimų SOS1 geno kandidato sekos variantų tyrimai = Analysis of the variety of sequence variants of cleft lip and/or palate vandidate gene SOS1 // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2010, t. 12, nr. 3, p. 119-122. Prieiga per internetą: <http://zurnalas.llmd.lt/lt/system/files/553908090a543f6ad49f050cd199729aeb1a40d6.pdf> [žiūrėta 2018-07-02]. [DB: Index Copernicus]
6 Valiulis, Arūnas (redaktorius); Misevičienė, Valdonė; Skurvydienė, Iveta; Dumčius, Sigitas; Urbonas, Vaidotas; Indrėjaitytė, Ieva Laimutė; Vaidelienė, Laimutė; Utkus, Algirdas; Miciulevičienė, Jolanta; Bush, Andrew. Lietuvos cistinės fibrozės diagnostikos ir gydymo sutarimas: įrodymais pagrįstos metodinės rekomendacijos = Lithuanian cystic fibrosis consensus report of diagnostics and treatment: evidence based guidelines // Vaikų pulmonologija ir alergologija / Lietuvos vaikų pulmonologų draugija. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-5261. 2010, t. 13, nr. 2, p. 4606-4653. [DB: Index Copernicus]
7 Cimbalistienė, Loreta; Tumienė, Birutė; Utkus, Algirdas; Kučinskas, Vaidutis; Brackman, H.; Santer, R. Fanconi-Bickel syndrome: three unrelated cases from Northern and Eastern Europe with the same novel mutation of the SLC2A2 gene // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2010, vol. 33, suppl. 1, p. s70. DOI: 10.1007/s10545-010-9163-x. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 3.808; AIF: 4.373; Q2 (2010 InCities JCR SCIE)]

2009
1 Skeivalas, Jonas; Utkus, Algirdas; Aleksiūnienė, Beata. Fotogrametrijos skaitiniai metodai atliekant chromosomų vaizdų analizę // Geodezija ir kartografija. Vilnius : Technika. ISSN 1392-1541. 2009, t. 35, nr. 4, p. 118-119. DOI: 10.3846/1392-1541.2009.35.118-125. [DB: Compendex, Scopus, GEOPHOKA, Current Abstracts]
2 Matulevičienė, Aušra; Ambrozaitytė, Laima; Preikšaitienė, Eglė; Utkus, Algirdas; Linkevičienė, Laura; Aleksiūnienė, Beata; Dagytė, Evelina; Čiuladaitė, Živilė; Šliužas, Vytautas; Kučinskas, Vaidutis. Spectrum of oral clefts in the light of contemporary research study // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2009, vol. 17, suppl. 2, p. 74. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2009Abstracts.pdf> [žiūrėta 2018-11-21]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.564; AIF: 4.368; Q2 (2009 InCities JCR SCIE)]
3 Aleksiūnienė, Beata; Utkus, Algirdas; Kučinskas, Vaidutis. A de novo double translocations 3;14 and 6;20 in a patient with mental retardation and microcephaly // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2009, vol. 17, suppl. 2, p. 128. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2009Abstracts.pdf> [žiūrėta 2018-11-21]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.564; AIF: 4.368; Q2 (2009 InCities JCR SCIE)]

2008
1 Šliužas, Vytautas; Utkus, Algirdas; Kučinskas, Vaidutis. Recombinant chromosome 14 due to maternal pericentric inversion // Journal of applied genetics. ISSN 1234-1983. 2008, vol. 49, no. 2, p. 205-207. DOI: 10.1007/BF03195614. [DB: BIOSIS Previews, Science Citation Index Expanded (Web of Science)] [IF: 1.351; AIF: 3.645; Q3 (2008 InCities JCR SCIE)]
2 Linkevičienė, Laura; Zaleckas, Linas; Olekas, Juozas; Martusevičiūtė, Jūratė; Utkus, Algirdas; Matulevičienė, Aušra; Radavičius, Marijus. The influence of cheiloplasty on maxillary cleft size // Stomatologija: vol. 10, suppl. 5 : 3-oji Baltijos šalių odontologijos mokslinė konferencija, 2008 m. lapkričio 6-8 d., Vilnius. ISSN 1392-8589. 2008, vol.. 10, suppl. 5, p. 21. [DB: Scopus, MEDLINE]
3 Preikšaitienė, Eglė; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Clinical heterogeneity in cases of oral clefts with multiple congenital anomalies // European journal of human genetics: vol. 16, suppl. 2: European human genetics conference 2008, Barcelona, Spain, 2008, May 31 - June 3 : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2008, vol. 16, suppl. 2, p. 112-113. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
4 Gabriel, H.; Kukučkova, M.; Utkus, Algirdas; Kučinskas, Vaidutis; Lott, A.; Gencik, M. Multi-copy amplification of the exon 2 of the dystrophin gene in a Duchenne muscular dystrophy patient: a new approach by Oligo-Array-CGH // European journal of human genetics: vol. 16, suppl. 2 : European human genetics conference 2008, Barcelona, Spain, 2008, May 31 - June 3 : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2008, vol. 16, suppl. 2, p. 400-401. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
5 Ambrozaitytė, Laima; Kasnauskienė, Jūratė; Uktverytė, Ingrida; Šliužas, Vytautas; Matulevičienė, Aušra; Preikšaitienė, Eglė; Utkus, Algirdas; Kučinskas, Vaidutis. Genomic investigation of Lithuanian patients with cleft lip and/or palate // Stomatologija. ISSN 1392-8589. 2008, t. 10, suppl. 5, p. 14-15. [DB: Scopus, MEDLINE]
6 Dumčius, Sigitas; Urbonas, Vaidotas; Utkus, Algirdas. Cistinės fibrozės diagnostikos sunkumai = Cystic fibrosis diagnostic issues // Medicinos teorija ir praktika. ISSN 1392-1312. 2008, t. 14, nr. 4, p. 371-377. Prieiga per internetą: <http://www.mtp.lt/files/67_pdfsam_.pdf> [žiūrėta 2009-04-07]. [DB: Index Copernicus]
7 Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Linkage disequilibrium between SNPs at the TGFA, TGFB3, GABRB3, RARA, and BCL3 loci and nonsyndromic cleft lip and (or) cleft palate in the Lithuanian population // Journal of Maxillofacial and Oral Surgery. New Delhi : Association of Oral and Maxillofacial Surgeons of India. ISSN 0972-8279. 2008, Vol. 7, no. 2, p. 214-218.

2007
1 Morkūnienė, Aušra; Steponavičiūtė, Danguolė; Utkus, Algirdas; Kučinskas, Vaidutis. Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania // Journal of applied genetics. ISSN 1234-1983. 2007, vol. 48, no. 1, p. 89-91. DOI: 10.1007/BF03194663. [DB: Science Citation Index Expanded (Web of Science), BIOSIS Previews] [IF: 0.967; AIF: 3.670; Q4 (2007 InCities JCR SCIE)]
2 Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. IRF6 gene's nucleotide sequence changies in patients with nonsyndromic orofacial clefting from Lithuania // European journal of human genetics: European human genetics conference 2007, Nice, France, 2007, June 16-19. London : Nature Publishing Group. ISSN 1018-4813. 2007, vol. 15, suppl. 1, p. 206. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
3 Kučinskas, Vaidutis; Končiūtė, Kristina; Utkus, Algirdas. Cystic fibrosis studies: an individual spectrum of CFTR gene mutations in Lithuania // European journal of human genetics: European human genetics conference 2007, Nice, France, 2007, June 16-19. London : Nature Publishing Group. ISSN 1018-4813. 2007, vol. 15, suppl. 1, p. 188. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
4 Zarakauskaitė, Eglė; Matulevičienė, Aušra; Utkus, Algirdas; Linkevičienė, Laura; Kučinskas, Vaidutis. Orofacial clefts with associated anomalies in Lithuania // European journal of human genetics: European human genetics conference 2007, Nice, France, 2007, June 16-19. London : Nature Publishing Group. ISSN 1018-4813. 2007, vol. 15, suppl. 1, p. 81. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2007Abstracts.pdf>. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
5 Tumienė, Birutė; Utkus, Algirdas; Čerkauskienė, Rimantė; Becker, R.; Reardon, W.; Janavičius, Ramūnas; Songailienė, Jurgita; Spaapen, L.J.M.; Kučinskas, Vaidutis. Dental symptoms - clue to the diagnosis of hypophosphatasia of childhood type // European journal of human genetics: European human genetics conference 2007, Nice, France, 2007, June 16-19. London : Nature Publishing Group. ISSN 1018-4813. 2007, vol. 15, suppl. 1, p. 67. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2007Abstracts.pdf>. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
6 Morkūnienė, Aušra; Steponavičiūtė, Danguolė; Ambrozaitytė, Laima; Utkus, Algirdas; Linkevičienė, Laura; Kučinskas, Vaidutis. Are TGFA, TGFB3, GABRB3, RARA and BCL3 loci associated with nonsyndromic orofacial clefts? A Lithuanian study = Ar TGFA, TGFB3, GABRB3, RARA ir BCL3 genai susiję su nesindrominiais burnos ir veido įskilumais? Lietuvos tyrimai // Biologija. ISSN 1392-0146. 2007, nr. 1, p. 1-6. [DB: CAB Abstracts, VINITI, TOC Premier, Current Abstracts (EBSCO), Zoological Record]
7 Zarakauskaitė, Eglė; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis; Linkevičienė, Laura. Orofacial clefts with associated anomalies in Lithuania = Su lūpos ir/ar gomurio nesuaugimu susijusios anomalijos Lietuvoje // Acta medica Lituanica. ISSN 1392-0138. 2007, vol. 14, no. 1, p. 17-23. [DB: TOC Premier, Current Abstracts (EBSCO), Index Copernicus]
8 Dobrovolskienė, Rasa; Utkus, Algirdas; Tumienė, Birutė; Rainienė, Tatjana; Czartoryska, Barbara. Fabry liga (klinikinis atvejis ir literatūros apžvalga) = Fabry's disease: a clinical case and literature review // Medicina. ISSN 1010-660X. 2007, t. 43, priedas 1, p. 139-144. [DB: Index Copernicus, DOAJ, MEDLINE]

2006
1 Kučinskas, Vaidutis; Steponavičiūtė, Danguolė; Morkūnienė, Aušra; Chung, M.Y.; Šliužas, Vytautas; Chen, Y.J.; Linkevičienė, Laura; Utkus, Algirdas. Locating genes for oral-facial clefting in humans // Human genomics and public health : international symposium and XXXI annual conference of Indian Society of Human Genetics, February 27 - March 1, 2006 : abstracts. New Delhi. 2006, p. 7-8.
2 Utkus, Algirdas; Končiūtė, Kristina; Tulevičienė, Jūra Brigita; Kučinskas, Vaidutis. Two cases with progressive movement disorder : from undiagnosed condition to confirming juvenile form of Huntington's disease // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2006, vol. 14, suppl. 1, p. 130-131. [IF: 3.697; AIF: 4.370; Q2 (2006 InCities JCR SCIE)]
3 Kučinskas, Vaidutis; Steponavičiūtė, Danguolė; Morkūnienė, Aušra; Chung, M.Y.; Šliužas, Vytautas; Chen, Y.J.; Linkevičienė, Laura; Utkus, Algirdas. Investigation of the genetic basis of oral-facial clefting in humans // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2006, vol. 14, suppl. 1, p. 348. [IF: 3.697; AIF: 4.370; Q2 (2006 InCities JCR SCIE)]
4 Dagytė, Evelina; Utkus, Algirdas; Kučinskas, Vaidutis. A girl with familial unbalanced translocation der(14)t(10;14)(q26.1;q13)mat // Laboratorinė medicina: Nr. 1 : 8th Baltic Congress of laboratory medicine, Vilnius 2006. Vilnius : Lietuvos laboratorinės medicinos draugija : Lietuvos žmogaus genetikos draugija : Nacionalinė laboratorijų tiekėjų asociacija (NLTA). ISSN 1392-6470. 2006, Nr. 1, p. 19. [DB: Index Copernicus]
5 Ghalamkarpour, A.; Morlot, S.; Raas-Rothschild, A.; Utkus, Algirdas; Mulliken, J.B.; Boon, L.M.; Vikkula, M. Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations // Clinical genetics. Copenhagen : Blackwell Munksgaard. ISSN 0009-9163. eISSN 1399-0004. 2006, vol. 70, iss. 4, p. 330-335. DOI: 10.1111/j.1399-0004.2006.00687.x. [DB: Scopus, Science Citation Index Expanded (Web of Science), Blackwell Synergy] [IF: 3.140; AIF: 4.402; Q2 (2006 InCities JCR SCIE)]
6 Kuzmickienė, Jurgita; Kaubrys, Gintaras Ferdinandas; Petroška, D.; Utkus, Algirdas. Patomorfologiškai patvirtintas mitochondrinės miopatijos su encefalopatija klinikinis atvejis = Morphologically proven case of mitochondrial myopathy with encephalopathy // Neurologijos seminarai. Vilnius. ISSN 1392-3064. 2006, t. 10, Nr. 2, p. 88-93. [DB: Index Copernicus]
7 Giannattasio, Sergio; Bobba, A.; Jurgelevičius, V.; Vacca, R.A.; Latanzio, P.; Merafina, R.S.; Utkus, Algirdas; Kučinskas, Vaidutis; Marra, E. Molecular basis of cystic fibrosis in Lithuania: Incomplete CFTR mutation detection by PCR-based screening protocols // Genetic testing. New Rochelle, NY : Mary Ann Liebert, Inc. ISSN 1090-6576. 2006, vol. 10, iss. 3, p. 169-173. DOI: 10.1089/gte.2006.10.169. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.118; AIF: 3.977; Q3 (2006 InCities JCR SCIE)]

2005
1 Ališauskas, Jonas; Arlauskienė, Audronė; Balčiūnienė, Irena; Benušienė, Eglė; Budrys, Valmantas; Bumbulienė, Žana; Dembinskas, Algirdas; Domža, Bronius; Drąsutienė, Gražina Stanislava; Drazdienė, Nijolė; Dubakienė, Rūta; Jamontaitė, Ieva Eglė; Juocevičius, Alvydas; Kaladytė Lokominienė, Rūta; Kalibatienė, Danutė; Kašinskas, Romas; Kocius, Manvilius; Krikštopaitytė, Rita; Kučinskas, Vaidutis; Mačiulienė, Kornelija; Manelienė, Rasmutė; Marčiukaitienė, Irena Ona; Mečėjus, Gediminas; Ožeraitienė, Violeta; Pūrienė, Alina; Račkauskienė, Olga; Raugalė, Algimantas; Rizgelienė, Renata; Šilkūnas, Mindaugas; Strupas, Kęstutis; Stukas, Rimantas; Triponienė, Dalia; Triponis, Vytautas Jonas; Tutkuvienė, Janina; Usonienė, Audronė; Utkus, Algirdas; Valevičienė, Nomeda; Vasjanova, Vilma; Venalis, Algirdas; Zakarevičienė, Jolita; Žiobakas, Rolandas. Akušerija ir ginekologija šeimos gydytojo praktikoje : mokomoji knyga. Vilnius : Vaistų žinios, 2005. 928 p. ISBN 9955511419.
2 Kučinskas, Vaidutis; Morkūnienė, Aušra; Kasperavičiūtė, Dalia; Utkus, Algirdas; Linkevičienė, Laura. Linking candidate-genes to orofacial clefts in Lithuania population // The American society of human genetics 55th annual meeting: abstracts, October 25-29, 2005, USA. 2005, p. 300.
3 Kjaer, K.W.; Hansen, L.; Eiberg, H.; Utkus, Algirdas; Skovgaard, L.T.; Leiccht, P.; Opitz, J.M.; Tommerup, N. A 72-year-old Danish puzzle resolved - Comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions // American journal of medical genetics. Part A. ISSN 1552-4825. 2005, vol. 138A, no. 4, p. 328-339. DOI: 10.1002/ajmg.a.30971. [DB: Science Citation Index Expanded (Web of Science), Wiley InterScience] [IF: 1.913; AIF: 4.459; Q3 (2005 InCities JCR SCIE)]
4 Končiūtė, Kristina; Utkus, Algirdas; Kučinskas, Vaidutis. 90% of CFTR gene mutations identified in Lithuanian cystic fibrosis patients: two novel frameshift mutations // 8th International symposium for cystic fibrosis. Praque. 2005, p. [1].
5 Končiūtė, Kristina; Utkus, Algirdas; Kučinskas, Vaidutis. Two novel CFTR gene mutations identified in cystic fibrosis patients from Lithuania: can the 4171insCCTA mutation be associated with low sweat chloride level? // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2005, vol. 13, suppl. 1, p. 259. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.251; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]
6 Morkūnienė, Aušra; Utkus, Algirdas; Kasperavičiūtė, Dalia; Linkevičienė, Laura; Kučinskas, Vaidutis. Linking TGFA gene to Cleft Lip with or without cleft plate // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2005, vol. 13, suppl. 1, p. 318. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.251; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]
7 Utkus, Algirdas; Linkevičienė, Laura; Kučinskas, Vaidutis. Oral clefts: associations with epidemiological and clinical characteristics among newborns in Lithuania, 1993-1997 // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2005, vol. 13, suppl. 1, p. 121. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.251; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]
8 Kučinskas, Vaidutis; Šliužas, Vytautas; Utkus, Algirdas; Cimbalistienė, Loreta. Mosaic chromosome 21 abnormality in the patient with syndromic cleft lip and cleft palate // Chromosome research. ISSN 0967-3849. 2005, vol. 13, suppl. 1, p. 41. [DB: Genetics Abstracts, Current Awareness in Biological Sciences, AgBiotech News and Information, Science Citation Index Expanded (Web of Science)] [IF: 3.007; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]
9 Wiesel, A.; Queisser-Luft, A.; Clementi, M.; Bianca, S.; Stoll, C.; Kučinskas, Vaidutis; Utkus, Algirdas. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries // European journal of medical genetics. Paris : Elsevier Masson. ISSN 1769-7212. 2005, vol. 48, no. 2, p. 131-144. DOI: 10.1016/j.ejmg.2005.02.003. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, GeoRef, Elsevier Biobase, Scopus]

2004
1 Utkus, Algirdas; Gruodė, Jūratė; Kučinskas, Vaidutis. Huntingtono ligos neuropsichiatriniai ir genetiniai aspektai // Psichikos ligų klinika ir gydymas : mokslinės praktinės konferencijos darbų rinkinys. Vilnius : Presvika, 2004. ISBN 9955567546. p. 28-30.
2 Vasiliauskas, Arūnas; Utkus, Algirdas; Matulevičienė, Aušra; Linkevičienė, Laura; Kučinskas, Vaidutis. The incidence of cleft lip and/or palate among newborns in Lithuania, 1993-1997 = Lūpos ir (ar) gomurio nesuaugimų dažnumas Lietuvos naujagimių grupėje 1993-1997 metais // Acta medica Lituanica. ISSN 1392-0138. 2004, vol. 11, no. 2, p. 1-6. [DB: Index Copernicus]
3 Zarakauskaitė, Eglė; Priščepionkaitė, Žaneta; Utkus, Algirdas; Matulevičienė, Aušra. Asmenų su lūpos ir (arba) gomurio skeltumu dermatoglifika = Dermatoglyphics in persons with cleft lip/palate // Laboratorinė medicina. Vilnius : Laboratorinės diagnostikos centras. ISSN 1392-6470. 2004, Nr. 1, p. 3-7.

2003
1 Židanavičiūtė, Jurgita; Radavičius, Marijus; Sušinskas, Jurgis; Utkus, Algirdas. Informacijos šaltinių apie Lietuvos vaikų įgimtų anomalijų paplitimą palyginamoji analizė = A comparative analysis of information sources about the prevalence of congenital anomalies of Lithuanian children // Lietuvos matematikos rinkinys. Lietuvos matematikų draugijos XLIV konferencijos mokslo darbai. Vilnius : Matematikos ir informatikos institutas. ISSN 0132-2818. 2003, t. 43, spec. Nr. p. 565-570. [DB: MathSciNet, VINITI, CIS: Current Index to Statistics, Zentralblatt MATH (zbMATH)]
2 Stoll, C.; Clementi, M.; Kučinskas, Vaidutis; Utkus, Algirdas. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe // Ultrasound in obstetrics and gynecology. Chichester : John Wiley & Sons Ltd. ISSN 0960-7692. 2003, Vol. 21, iss. 6, p. 543-551. DOI: 10.1002/uog.125. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 1.973; AIF: 1.657; Q1 (2003 InCities JCR SCIE)]

2002
1 Benušienė, Eglė; Utkus, Algirdas; Bartsch, Oliver; Kučinskas, Vaidutis. Familial report of unbalanced X;22 translocation // Early prenatal diagnosis, fetal cells and DNA in the mother : present state and perspectives : proceedings of 12th fetal cell workshop, Prague, May 2001. Prague : Karolinum press. 2002, p. 340-346.
2 Utkus, Algirdas; Panavienė, Violeta Vladislava; Šestel, Natalija. Clinical and biochemical phenotype of familial hypercholesterolemia = Klinikinis ir biocheminis šeiminės hipercholesterolemijos fenotipas // Laboratorinė medicina. ISSN 1392-6470. 2002, spec. priedas, p. 35-37.

2001
1 Benušienė, Eglė; Utkus, Algirdas; Butkevičienė, Eglė; Kučinskas, Vaidutis; Bartsch, Oliver. Familial report of unbalanced X;22 translocation // 12th fetal cell workshop : satellite symposium of the 10th international congress of human genetics 2001 Vienna, Austria, May 15-19, 2001 within the frame of the European Union project COPERNICUS-2. 2001, p. 77.
2 Utkus, Algirdas. Teratogeniniai agentai (infekcijos) žmogaus embrionui ir vaisiui (literatūros apžvalga) // Medicina. ISSN 1010-660X. 2001, t. 37, nr. 8, p. 749-758.
3 Utkus, Algirdas; Jurgelevičius, Vaclovas; Kučinskas, Vaidutis. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism // 6th international conference of Baltic child neurology association, June 13-16, 2001, Kaunas : program and abstracts. Kaunas. 2001, p. 176.
4 Utkus, Algirdas; Kazakevičius, Rimgaudas Virgilijus; Ptašekas, Ruvinas; Kučinskas, Vaidutis; Beckwith, J. Bruce; Opitz, John M. Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection // American journal of medical genetics. ISSN 0148-7299. 2001, vol. 101, no. 2, p. 163-171. DOI: 10.1002/ajmg.1320. [DB: Science Citation Index Expanded (Web of Science)] [IF: 2.378; AIF: 0.000; Q2 (2001 InCities JCR SCIE)]
5 Opitz, John M.; Utkus, Algirdas. Comments on biological asymmetry // American journal of medical genetics. ISSN 0148-7299. 2001, vol. 101, no. 4, p. 359-369. DOI: 10.1002/1096-8628(20010715)101:4<359::AID-AJMG1421>3.3.CO;2-J. [DB: Science Citation Index Expanded (Web of Science), Conference Proceedings Citation Index - Science (Web of Science)] [IF: 2.378; AIF: 0.000; Q2 (2001 InCities JCR SCIE)]
6 Skurvydienė, Ieva; Indrėjaitytė, Ieva Laimutė; Utkus, Algirdas; Valiulis, Arūnas. Nosies potencialų skirtumo reikšmė diagnozuopjant obstrukcines kvėpavimo takų ligas // Vaikų pulmonologija ir alergologija. ISSN 1392-5261. 2001, t. 4, Nr. 1, p. 1187-1196.
7 Radavičius, Marijus; Sušinskas, Jurgis; Utkus, Algirdas. Lietuvos vaikų įgimtų raidos anomalijų statistinis tyrimas = Statistical analysis of congenital anomlies in children in Lithuania // Lietuvos matematikos rinkinys. Vilnius. ISSN 0132-2818. 2001, T. 41, spec.nr. p. 469-477. [DB: CIS (Current Index to Statistics), MathSciNet, Zentralblatt MATH (zbMATH)]

2000
1 Raugalė, Algimantas; Bačiulis, Vytautas; Basys, Vytautas; Cimbalistienė, Loreta; Dobrovolskis, Konstantinas Romualdas; Drazdienė, Nijolė; Indrėjaitytė, Ieva Laimutė; Jučaitė, Aurelija; Kinčinienė, Odeta; Kučinskas, Vaidutis; Ragelienė, Lina; Rudzikienė, Marija-Danutė; Sadauskas, Jonas; Tilindienė, Nijolė; Tutkuvienė, Janina; Urbonavičienė, Ramunė Teresė; Utkus, Algirdas; Valiulis, Arūnas; Vingras, Algimantas Alfonsas; Žilinskaitė, Virginija. Vaikų ligos. T. 1: Vaikų ligų propedeutika, naujagimio ligos, paveldimosios ligos : [vadovėlis aukštosioms mokykloms]. Vilnius : Gamta, 2000. 639 p. ISBN 995544701X.
2 Stoll, C.; Wiesel, A.; Queisser-Luft, A.; Froster, U.; Bianka, S.; Clementi, M.; Kučinskas, Vaidutis; Utkus, Algirdas. Evaluation of the prenatal diagnosis of limb reduction deficiencies // Prenatal diagnosis. Chichester : John Wiley & Sons Ltd. ISSN 0197-3851. 2000, vol. 20, no 10, p. 811-818. Prieiga per internetą: <http://onlinelibrary.wiley.com/doi/10.1002/1097-0223(200010)20:10%3C811::AID-PD927%3E3.0.CO;2-J/pdf> [žiūrėta 2013-06-28]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, Elsevier Biobase, CAB Abstracts, Scopus, Embase] [IF: 1.647; AIF: 0.000; Q2 (2000 InCities JCR SCIE)]

1999
1 Kučinskas, Vaidutis; Jurgelevičius, Vaclovas; Utkus, Algirdas; Budrys, Valmantas. Hantingtono chorėjos diagnostikos ir profilaktikos galimybės Lietuvoje // Neurologijos seminarai. ISSN 1392-3064. 1999, Nr. 1, p. 70-73.
2 Ignatavičiūtė, Živilė-Margarita; Storpirštytė, Alicija Danguolė; Kosinskas, Eugenijus; Utkus, Algirdas; Žurauskas, Edvardas. Idiopatinė paveldima restrikacinė kardiomiopatija // Lithuanian journal of cardiology. ISSN 1392-1339. 1999, vol. 6, nr. 3, p. 685-688.
3 Skurvydienė, Iveta; Utkus, Algirdas; Ambrasienė, Daiva; Valiulis, Arūnas. Lietuvos vaikų, sergančių cistine fibroze, charakteristika remiantis šiuolaikiniais klinikiniais ir laboratoriniais tyrimais // Vaikų pulmonologija ir alergologija. ISSN 1392-5261. 1999, t. 2, Nr. 2-3, p. 446-458.
4 Utkus, Algirdas; Sorokina, Irina; Kučinskas, Vaidutis; Röthlisberger, Benno; Balmer, Damina; Brecevic, Lukrecija; Schinzel, Albert. Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p.22.1) // Journal of medical genetics. London : BMJ Publishing group. ISSN 1468-6244. 1999, vol 36, p. 73-76. [DB: Science Citation Index Expanded (Web of Science)]

1998
1 Čerkauskienė, Rimantė; Jankauskienė, Augustina; Kaltenis, Petras; Utkus, Algirdas. Pararenale Manifestation der juvenilen Nephronophthise // Monatsschrift für Kinderheilkunde. Berlin : Springer. ISSN 0026-9298. 1998, Vol. 146, p. 177. [IF: 0.191; AIF: 0.000; Q4 (1998 InCities JCR SCIE)]