VU Medicinos fakulteto autoriaus 'Birutė Burnytė' publikacijų sąrašas

2025
1 Senkevičiūtė, Greta; Dagytė, Evelina; Šliužas, Vytautas; Pečiulienė, Skaistė; Burnytė, Birutė. Mosaic trisomy 12 – A case of a rare phenotypic association and literature review // Brain and development case reports. Amsterdam : Elsevier. ISSN 2950-2217. 2025, vol. 3, iss. 1, art. no. 100058, p. [1-4]. DOI: 10.1016/j.bdcasr.2024.100058. [DB: ScienceDirect]
2 Aliošaitienė, Urtė; Čerkauskienė, Rimantė; Laucevičius, Aleksandras; Vilniškytė, Miglė; Sutkus, Viktoras; Mainelis, Antanas; Burnytė, Birutė; Barysienė, Jūratė; Petrulionienė, Žaneta. Genetic spectrum of Lithuanian familial hypercholesterolemia patients // Journal of cardiovascular development and disease. Basel : MDPI. ISSN 2308-3425. 2025, vol. 12, iss. 5, art. no. 197, p. [1-12]. DOI: 10.3390/jcdd12050197. [DB: Scopus, Science Citation Index Expanded (Web of Science)]
3 Jurkevičienė, J.; Lizaitienė, G.; Zailskas, Donatas; Morkūnienė, A.; Burnytė, Birutė. ERCC4 variants causing neurodegeneration with ataxia and chorea in three siblings in Lithuanian family // Parkinsonism & related disorders: Abstracts at the 2025 congress of the International Association of Parkinsonism and Related Disorders in New York, NY, USA. London : Elsevier. ISSN 1353-8020. eISSN 1873-5126. 2025, vol. 134, art. no. 107663, p. [1-2]. DOI: 10.1016/j.parkreldis.2025.107663. [DB: Science Citation Index Expanded (Web of Science)]
4 Kemežytė, Aurelija; Meškienė, Raimonda; Utkus, Algirdas; Burnytė, Birutė. Spectrum of genetic variants detected in children tested for long QT syndrome // BMC cardiovascular disorders. London : BioMed Central Ltd. eISSN 1471-2261. 2025, vol. 25, iss. 1, art. no. 670, p. [1-7]. DOI: 10.1186/s12872-025-05118-4. [DB: Science Citation Index Expanded (Web of Science), Scopus]

2024
1 Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger. Genetic landscape of pediatric acute liver failure of indeterminate origin // Hepatology. Philadelphia : Wolters Kluwer Health, Inc. ISSN 0270-9139. eISSN 1527-3350. 2024, vol. 79, iss. 5, p. 1075-1087. DOI: 10.1097/HEP.0000000000000684. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 16.800; AIF: 5.100; Q1 (2024 InCities JCR SCIE)]
2 Trakymas, Gaudas Benediktas; Nemanienė, Rolanda; Burnytė, Birutė. Paris-Trousseau syndrome with multisystem involvement in a patient with Jacobsen syndrome // NOPHO 2024: Nordic Society of Pediatric Hematology and Oncology conference, 03-06.05.2024 Tallinn, Estonia : abstract book. Tallinn : NOPHO. 2024, p. 43-44. Prieiga per internetą: <https://conference-expert-nopho2024.github.io/archive/content/uploads/abstracts/nopho2024/nopho2024_abstracts.pdf>.
3 Jokubaitis, Mantas; Lengvenis, Givi; Burnytė, Birutė; Audronytė, Eglė; Ryliškienė, Kristina. Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks // Frontiers in neurology. Lausanne : Frontiers Media SA. eISSN 1664-2295. 2024, vol. 15, p. [1-5]. DOI: 10.3389/fneur.2024.1359994. [DB: Science Citation Index Expanded (Web of Science), Scopus]
4 Kemežytė, Giedrė; Burnytė, Birutė (temos vadovas). Familial Bethlem myopathy in a pediatric patient: a case report // International student conference on pediatrics 2024, April 20th : abstract book. Vilnius : Vilnius University Press, 2024. eISBN 9786090710494. p. 17. (Vilnius University Proceedings, eISSN 2669-0233 ; Nr. 45). DOI: 10.15388/Proceedings.2024.45. [DB: Dimensions]
5 Altunoglu, Umut; Palencia-Campos, Adrian; Güneş, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; Amin, Asmaa K.; Elnahas, Rania F.; Fernandez-Nuñez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Fernández, Carlos Israel Chamorro; Güven, Yeliz; Özsu, Elif; Eklioğlu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnytė, Birutė; Ajmi, Houda; Yüksel, Zafer; Yıldırım, Ruken; Ünal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Pérez, Victor. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis // Journal of medical genetics. London : BMJ Publishing Group. ISSN 0022-2593. eISSN 1468-6244. 2024, vol. 61, iss. 7, p. 633-644. DOI: 10.1136/jmg-2023-109546. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.700; AIF: 3.700; Q2 (2024 InCities JCR SCIE)]
6 Wilson, Matthew P.; Kentache, Takfarinas; Althoff, Charlotte R.; Schulz, Celine; de Bettignies, Geoffroy; Cabrera, Gisele Mateu; Cimbalistienė, Loreta; Burnytė, Birutė; Yoon, Grace; Bommer, Guido T. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis // Cell. Cambridge, MA : Cell Press. ISSN 0092-8674. eISSN 1097-4172. 2024, vol. 187, iss. 14, p. [1-17]. DOI: 10.1016/j.cell.2024.04.041. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 42.500; AIF: 6.250; Q1 (2024 InCities JCR SCIE)]
7 Lan, Min-Yu; Lin, Tsu-Kung; Lace, Baiba; Utkus, Algirdas; Burnytė, Birutė; Grigalionienė, Kristina; Lin, Yu-Han; Inashkina, Inna; Liou, Chia-Wei. Unraveling the pathogenetic mechanisms underlying the association between specific mitochondrial DNA haplogroups and Parkinson’s disease // Cells. Basel : MDPI. eISSN 2073-4409. 2024, vol. 13, iss. 8, art. no. 694, p. [1-12]. DOI: 10.3390/cells13080694. [DB: Science Citation Index Expanded (Web of Science), Scopus]
8 Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Õunap, Katrin; Riccio, Andrea; Perez de Nanclares, Guiomar; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep. Multi‑locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis // Clinical epigenetics. London : BMC. ISSN 1868-7075. eISSN 1868-7083. 2024, vol. 16, iss. 1, art. no. 99, p. [1-19]. DOI: 10.1186/s13148-024-01713-y. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 4.400; AIF: 4.350; Q1 (2024 InCities JCR SCIE)]
9 Valančius, Domantas; Burnytė, Birutė; Masaitienė, Raminta; Morkūnienė, Aušra; Klimašauskienė, Aušra. Rapidly progressing and early-onset forms of amyotrophic lateral sclerosis caused by a novel SOD1 variant in a Lithuanian family // Neurology genetics. Philadelphia : Lippincot Williams & Wilkins. eISSN 2376-7839. 2024, vol. 10, iss. 6, art. no. e200217, p. [1-4]. DOI: 10.1212/NXG.0000000000200217. [DB: Science Citation Index Expanded (Web of Science), Scopus]
10 Grigalionienė, Kristina; Burnytė, Birutė; Utkus, Algirdas; Ambrozaitytė, Laima. Mitochondrial DNA copy number variation in patients with suspected mitochondrial disease // European journal of human genetics: Abstracts from the 56th European Society of Human Genetics (ESHG) conference, June 10-13, 2023, Glasgow, Scotland : e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2024, vol. 32, suppl. 1, p. 164-165. DOI: 10.1038/s41431-023-01481-y. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.600; AIF: 4.500; Q1 (2024 InCities JCR SCIE)]
11 Kemežytė, Aurelija; Burnytė, Birutė (temos vadovas). Vaikų ilgo QT intervalo pokyčiai ir jo genetinės ypatybės // Studentų mokslinės veiklos tinklo LXXVI konferencija, Vilnius, 2024 m. gegužės 13-17 d. : pranešimų tezės / leidinį sudarė Kristijonas Puteikis, Rima Daunoravičienė. Vilnius : Vilniaus universiteto leidykla. eISSN 2783-7831. 2024, p. 638. (Vilnius University Proceedings, eISSN 2669-0233 ; t. 42). DOI: 10.15388/SMVK.2024. [DB: Dimensions]
12 Kemežytė, Aurelija; Meškienė, Raimonda; Burnytė, Birutė. Genetic findings of paediatric patients tested for long QT syndrome // European journal of human genetics: Abstracts from the 57th European Society of Human Genetics (ESHG) conference, June 1-4, 2024, Berlin, Germany : e-posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2024, vol. 32, suppl. 2, art. no. EP07.063, p. 1019. DOI: 10.1038/s41431-024-01733-5. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.600; AIF: 4.500; Q1 (2024 InCities JCR SCIE)]
13 Pakeltytė, Donata; Burnytė, Birutė. Prognostinių tyrimų apžvalga, orientuota į šoninę amiotrofinę sklerozę ir frontotemporalinę demenciją = Review of prognostic testing for amyotrophic lateral sclerosis and frontotemporal dementia // Neurologijos seminarai. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-3064. eISSN 2424-5917. 2024, vol. 28, no. 4(102), p. 238-244. DOI: 10.15388/NS.2024.28.102.3. [DB: Academic Search Ultimate, Dimensions, DOAJ, Scilit]

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] [IF: 1.500; AIF: 3.600; Q4 (2023 InCities JCR SCIE)]
2 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] [IF: 1.500; AIF: 2.850; Q2 (2023 InCities JCR SCIE)]
3 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] [IF: 3.600; AIF: 3.550; Q1 (2023 InCities JCR SCIE)]
4 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>.
5 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)] [IF: 3.200; AIF: 3.700; Q2 (2023 InCities JCR SCIE)]
6 Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, René G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnytė, Birutė; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Müller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rötig, Agnès; Santer, René; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants // Genetics in medicine. New York : Elsevier Science. ISSN 1098-3600. eISSN 1530-0366. 2023, vol. 25, iss. 6, art. no. 100314, p. [1-16]. DOI: 10.1016/j.gim.2022.09.015. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 6.700; AIF: 3.600; Q1 (2023 InCities JCR SCIE)]
7 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)]
8 Kemežytė, Aurelija; Gegieckienė, Rūta; Burnytė, Birutė. Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome // BMC pediatrics. London : BMC. ISSN 1471-2431. 2023, vol. 23, iss. 1, art. no. 539, p. [1-9]. DOI: 10.1186/s12887-023-04357-8. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 2.000; AIF: 2.200; Q2 (2023 InCities JCR SCIE)]
9 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)] [IF: 3.700; AIF: 4.350; Q2 (2023 InCities JCR SCIE)]
10 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)] [IF: 3.700; AIF: 4.350; Q2 (2023 InCities JCR SCIE)]
11 Asadauskaitė, Greta; Vilimienė, Ramunė; Augustinavičius, Vytautas; Burnytė, Birutė. Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review // Frontiers in neurology. Lausanne : Frontiers Media SA. eISSN 1664-2295. 2023, vol. 14, art. no. 1290960, p. [1-5]. DOI: 10.3389/fneur.2023.1290960. [DB: Science Citation Index Expanded (Web of Science), Scopus]
12 Kemežytė, Aurelija; Burnytė, Birutė (temos vadovas). Ankstyvos pradžios Marfano sindromas: genotipo reikšmė išgyvenamumo prognozei ir klinikiniam pasireiškimui // Studentų mokslinės veiklos LXXV konferencija, Vilnius, 2023 m. gegužės 15–19 d.: pranešimų tezės; leidinį sudarė Simona Kildienė. Vilnius : Vilniaus universiteto leidykla. eISSN 2783-7831. 2023, p. 597-598. (Vilnius University Proceedings, eISSN 2669-0233 ; vol. 33). DOI: 10.15388/SMVK.2023. [DB: Dimensions]
13 Senkevičiūtė, Greta; Burnytė, Birutė (temos vadovas). Vaikų raumenų laminopatijoss // Studentų mokslinės veiklos LXXV konferencija, Vilnius, 2023 m. gegužės 15–19 d.: pranešimų tezės; leidinį sudarė Simona Kildienė. Vilnius : Vilniaus universiteto leidykla. eISSN 2783-7831. 2023, p. 601-602. (Vilnius University Proceedings, eISSN 2669-0233 ; vol. 33). DOI: 10.15388/SMVK.2023. [DB: Dimensions]
14 Schlieben, Lea Dewi; Lenz, Dominic; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Adam, Rudiger; Vogel, Georg-Friedrich; Baric, Ivo; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Das, Anibh M.; Distelmaier, Felix; Freisinger, Peter; Hadzic, Nedim; Hartleif, Steffen; Hempel, Maja; Kansu, Aydan; Kaspar, Sonja; Kelly, Deidre; Knoppke, Birgit; Konstantopoulou, Vassiliki; Krylova, Tatiana; Alice, Kuster; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; McKiernan, Patrick; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Taylor, Robert; Wortmann, Saskia; Vockley, Jerry; Koelker, Stefan; Hoffmann, Georg Friedrich; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger. The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference, Vienna, Austria, June 11-14, 2022 : : oral presentations. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. C10.1, p. 32-33. DOI: 10.1038/s41431-023-01337-5. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.700; AIF: 4.350; Q2 (2023 InCities JCR SCIE)]
15 Asadauskaitė, Greta; Burnytė, Birutė; Morkūnienė, Aušra; Utkus, Algirdas. Identification of novel BICRA variant leading to the newly described Coffin–Siris syndrome 12 // 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, abstract no. EP12.025, p. 224. DOI: 10.1038/s41431-023-01339-3. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.700; AIF: 4.350; Q2 (2023 InCities JCR SCIE)]

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 Kazlauskas, Vytis; Bilius, Vytautas; Jakutis, Virginijus; Komiagienė, Renata; Burnytė, Birutė; Verkauskas, Gilvydas. Urine biomarkers combined with ultrasound for the diagnosis of obstruction in pediatric hydronephrosis // Frontiers in pediatrics. Lausanne : Frontiers media SA. ISSN 2296-2360. 2022, vol. 9, art. no. 762417, p. [1-9]. DOI: 10.3389/fped.2021.762417. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 2.600; AIF: 3.000; Q2 (2022 InCities JCR SCIE)]
3 Čerkauskaitė, Agnė; Savige, Judy; Janonytė, Karolina; Jeremičiūtė, Ieva; Miglinas, Marius; Kazėnaitė, Edita; Laurinavičius, Arvydas; Strupaitė-Šileikienė, Rasa; Vainutienė, Vija; Burnytė, Birutė; Jankauskienė, Augustina; Rolfs, Arndt; Bauer, Peter; Schröder, Sabine; Čerkauskienė, Rimantė. Identification of 27 novel variants in genes COL4A3, COL4A4, and COL4A5 in Lithuanian families with Alport syndrome // Frontiers in medicine. Lausanne : Frontiers Media SA. eISSN 2296-858X. 2022, vol. 9, art. no. 859521, p. [1-12]. DOI: 10.3389/fmed.2022.859521. [DB: Science Citation Index Expanded (Web of Science), Scopus, Embase]
4 Trainavičius, Ignas; Dasevičius, Darius; Burnytė, Birutė; Kemežys, Robertas; Verkauskas, Gilvydas. Early bilateral gonadoblastoma in a patient with mixed gonadal dysgenesis (karyotype 45,X/46,XY): case report and review of literature // Acta medica Lituanica. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0138. eISSN 2029-4174. 2022, vol. 29, no. 2, p. 194-200. DOI: 10.15388/Amed.2022.29.2.5. [DB: PubMed, Emerging Sources Citation Index (Web of Science), Scopus, Dimensions]
5 Mroczek, Magdalena; Inashkina, Inna; Stavusis, Janis; Zayakin, Pawel; Khrunin, Andrey; Micule, Ieva; Kenina, Victorija; Zdanovica, Anna; Zídková, Jana; Fajkusová, Lenka; Limborska, Svetlana; van der Kooi, Anneke J.; Brusse, Esther; Leonardis, Lea; Maver, Ales; Pajusalu, Sander; Õunap, Katrin; Puusepp, Sanna; Dobosz, Paula; Sypniewski, Mateusz; Burnytė, Birutė; Lace, Baiba. CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related // Human mutation. Hoboken : Wiley. ISSN 1059-7794. eISSN 1098-1004. 2022, vol. 43, no. 10, p. 1347-1353. DOI: 10.1002/humu.24421. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.900; AIF: 4.200; Q2 (2022 InCities JCR SCIE)]
6 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)]
7 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]
8 Lenz, D.; Schlieben, L.D.; Shimura, M.; Bianzano, A.; Garbade, S.; Smirnov, D.; Kopajtich, R.; Adam, R.; Aldrian, D.; Baric, I.; Baumann, U.; Bozbulut, N.E.; Bufler, P.; Burnytė, Birutė; Calvo, P.L.; Crushell, E.; Dalgıç, B.; Das, A.; Dezsofi, A.; Dick, A.; Distelmaier, F.; Freisinger, P.; Gaspar, H.; Goujon, L.; Hadzic, N.; Hartleif, S.; Hegen, B.; Hempel, M.; Henning, S.; Hörning, A.; Houwen, R.; Hughes, J.; Iorio, R.; Iwanicka-Pronicka, K.; Jankofsky, M.; Junge, N.; Kansu, A.; Kaspar, S.; Kathemann, S.; Kelly, D.; Knoppke, B.; Kohl, M.; Kölbel, H.; Konstantopoulou, V.; Krylova, T.; Kuster, A.; Laaß, M.W.; Lainka, E.; Lloyd, C.; Lurz, E.; Mandel, H.; Mayr, J.A.; McKiernan, P.; McLin, V.; Mention, K.; Müller, H.; Pasquier, L.; Petkovic Ramadza, D.; Piekutowska-Abramczuk, D.; Pilic, D.; Rock, N.; Roetig, A.; Santer, R.; Semenova, N.; Sokolik, C.; Sturm, E.; Taylor, R.W.; Urbonas, Vaidotas; Urreizti, R.; Vermehren, J.; Vockley, J.; Vogel, G.F.; Wortmann, S.B.; Zakharova, E.; Kölker, S.; Hoffmann, G.F.; Meitinger, T.; Murayama, K.; Staufner, C.; Prokisch, H. Genetic landscape of paediatric acute liver failure // Journal of pediatric gastroenterology and nutrition: ESPGHAN 54th annual meeting abstracts. Philadelphia : Lippincott Williams & Wilkins. ISSN 0277-2116. eISSN 1536-4801. 2022, vol. 74, suppl. S2, p. 676-677. DOI: 10.1097/MPG.0000000000003446. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 2.900; AIF: 4.900; Q2 (2022 InCities JCR SCIE)]
9 Asadauskaitė, Greta; Burnytė, Birutė (temos vadovas). Naujas BICRA geno variantas: klinikinio atvejo aprašymas // Studentų mokslinės veiklos LXXIV konferencija, Vilnius, 2022 m. gegužės 16-20 d. : pranešimų tezės / leidinį sudarė Simona Kildienė. Vilnius : Vilniaus universiteto leidykla, 2022. eISBN 9786090707371. p. 511-512. (Vilnius University Proceedings, eISSN 2669-0233 ; vol. 21). DOI: 10.15388/SMVK.2022. [DB: Dimensions]
10 Mroczek, M.; Inashkina, I.; Stavusis, J.; Zayakin, P.; Khrunin, A.; Micule, I.; Kenina, V.; Zdanovica, A.; Zidkova, J.; Fajkusova, L.; Limborska, S.; Van der Kooi, A. J.; Brusse, E.; Leonardis, L.; Maver, A.; Pajusalu, S.; Ounap, K.; Puusepp, S.; Dobosz, P.; Sypniewski, M.; Burnytė, Birutė; Lace, B. A common calpain-3 variant explains a significant number of LGMD R1 calpain3-related cases in Eastern and Central Europe // European journal of neurology: Special Issue: Abstracts of the 8th Congress of the European Academy of Neurology, Vienna, Austria. Hoboken : Wiley. ISSN 1351-5101. eISSN 1468-1331. 2022, vol. 29, suppl. 1, art. no. EPR-089, p. 233. DOI: 10.1111/ene.15465. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.100; AIF: 4.400; Q1 (2022 InCities JCR SCIE)]
11 Senkevičiūtė, Greta; Burnytė, Birutė (temos vadovas). Neuroraumeninių ligų naujos kartos sekoskaitos diagnostinis efektyvumas // Studentų mokslinės veiklos LXXIV konferencija, Vilnius, 2022 m. gegužės 16–20 d. : pranešimų tezės / leidinį sudarė Simona Kildienė. Vilnius : Vilniaus universiteto leidykla, 2022. eISBN 9786090707371. p. 514-515. (Vilnius University Proceedings, eISSN 2669-0233 ; vol. 21). DOI: 10.15388/SMVK.2022. [DB: Dimensions]
12 Senkevičiūtė, Greta; Burnytė, Birutė. The genetic heterogeneity in neuromuscular disorders: a study of next-generation sequencing results // 22nd EAA congress – 15th ISGA congress – 5th international conference of evolutionary medicine, August 24-27, 2022 Vilnius, Lithuania : abstract book. Vilnius : Vilniaus universiteto leidykla, 2022. ISBN 9786090707593. eISBN 9786090707609. p. 204. (Vilnius University Proceedings, eISSN 2669-0233 ; vol. 27). DOI: 10.15388/EAA-ISGA-ICEMMeeting.2022.
13 Senkevičiūtė, Greta; Morkūnienė, Aušra; Burnytė, Birutė. Diagnostic outcomes of next-generation sequencing in children with neuromuscular disorders // 16th International Conference of Baltic Child Neurology Association (BCNA 2022) : 12-14 May 2022, Pärnu, Estonia : final programme and abstract book. Pärnu : Baltic Child Neurology Association. 2022, p. 49.

2021
1 Ruzgienė, Dovilė; Sutkevičiūtė, Meda; Burnytė, Birutė; Grigalionienė, Kristina; Jankauskienė, Augustina. Reverse phenotyping maternal cystic kidney disease by diagnosis in a newborn: case report and literature review on neonatal cystic kidney diseases = Motinos cistinės inkstų ligos fenotipo nustatymas remiantis naujagimio diagnoze: klinikinio atvejo aprašymas ir literatūros apžvalga apie naujagimių cistines inkstų ligas // Acta medica Lituanica. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0138. eISSN 2029-4174. 2021, vol. 28, no. 2, p. 308-316. DOI: 10.15388/Amed.2021.28.2.5. [DB: Scopus, Index Copernicus, MEDLINE]
2 Ažukaitis, Karolis; Ambrozaitytė, Laima; Burnytė, Birutė; Grigalionienė, Kristina; Mazur, Gabija; Ruzgienė, Dovilė; Čerkauskienė, Rimantė; Jankauskienė, Augustina. Value and diagnostic yield of targeted next generation sequencing in children with suspected genetic kidney disease: Lithuanian tertiary center experience // Pediatric nephrology: Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021. New York : Springer. ISSN 0931-041X. eISSN 1432-198X. 2021, vol. 36, p. 3451. DOI: 10.1007/s00467-021-05210-9. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.652; AIF: 3.911; Q2 (2021 InCities JCR SCIE)]
3 Ivaškevičienė, Austėja; Ševčenko, Violeta; Burnytė, Birutė; Ažukaitis, Karolis; Jankauskienė, Augustina; Čerkauskienė, Rimantė. Presenting features of nephrocalcinosis and urolithiasis in Lithuanian children – a single center experience 2016 – 2020 // Pediatric nephrology: Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021. New York : Springer. ISSN 0931-041X. eISSN 1432-198X. 2021, vol. 36, iss. 10, p. 3470. DOI: 10.1007/s00467-021-05210-9. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.652; AIF: 3.911; Q2 (2021 InCities JCR SCIE)]
4 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]
5 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]
6 Lace, B.; Stavusis, J.; Micule, I.; Kenina, V.; Taurina, G.; Zdanovica, A.; Mroczek, M.; Burnytė, Birutė; Inaskina, I. LGMD: EP.195 The most common CAPN3 disease causing variant in north-eastern Europe population or controversial coincidence // Neuromuscular disorders. Oxford : Pergamon-Elsevier Science. ISSN 0960-8966. 2021, vol. 31, suppl. 1, p. S108. DOI: 10.1016/j.nmd.2021.07.220. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.538; AIF: 4.974; Q2 (2021 InCities JCR SCIE)]
7 Malcorps, Matilde; Burnytė, Birutė; Amor-Barris, Silvia; Morkūnienė, Aušra; Ambrozaitytė, Laima; Ekshteyn, Alexandra; Armirola-Ricaurte, Camila; Morant, Laura; De Vriendt, Els; Bleyenberg, Astrid; Jordanova, Albena; Peeters, Kristien. Genetic and functional characterization of a novel HINT1 variant with a potential founder effect in Lithuania // Journal of the peripheral nervous system: 2021 Peripheral Nerve Society virtual event. Hoboken : Wiley. ISSN 1085-9489. eISSN 1529-8027. 2021, vol. 26, iss. 3, p. 402. DOI: 10.1111/jns.12460. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.188; AIF: 4.974; Q2 (2021 InCities JCR SCIE)]
8 Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabo, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Sekelj Fureš, Jadranka; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnytė, Birutė; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Bouchenak Khelladi, Djawed; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra. Ethnicity-related DMD genotype landscapes in European and non-European countries // Neurology genetics. Philadelphia : Lippincot Williams & Wilkins. ISSN 2376-7839. 2021, vol. 7, iss. 1, art. no. e536, p. [1-12]. DOI: 10.1212/NXG.0000000000000536. [DB: Science Citation Index Expanded (Web of Science), Scopus, Embase] [IF: 3.663; AIF: 4.698; Q2 (2021 InCities JCR SCIE)]
9 Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnytė, Birutė; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Güleç, Elif Yılmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicová, Markéta; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cavé, Hélène; Zenker, Martin. The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2021, vol. 29, iss. 3, p. 524-527. DOI: 10.1038/s41431-020-00743-3. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 5.351; AIF: 5.586; Q1 (2021 InCities JCR SCIE)]
10 Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaitytė, Laima; Burnytė, Birutė; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas. One test for all: whole exome sequencing signifcantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome // Orphanet journal of rare diseases. London : BioMed Central Ltd. eISSN 1750-1172. 2021, vol. 16, art. no. 42, p. [1-10]. DOI: 10.1186/s13023-021-01683-x. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed]

2020
1 Brinkmann, J.; Lissewski, C.; Pinna, V.; Vial, Y.; Pantaleoni, F.; Lepri, F.; Daniele, P.; Burnytė, Birutė; Cuturilo, G.; Fauth, C.; Kotzot, D.; Gulec, E. Y.; Iotova, V.; Forzano, G.; Schanze, D.; Ramond, F.; Havlovicova, M.; Utine, G. E.; Simsek-Kiper, P. O.; Verloes, A.; De Luca, A.; Tartaglia, M.; Cave, H.; Zenker, M. The role of A2ML1 variants in Noonan syndrome remains unverified // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P11.81.C, p. 479. 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)]
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 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)]
4 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)]
5 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)]
6 Naudžiūnaitė, Simona; Burnytė, Birutė (temos vadovas). Paveldima neuropatija su polinkiu į suspaudimo paralyžius: atvejo aprašymas // Studentų mokslinės veiklos LXXII konferencija : Vilnius, 2020 m. gegužės 18-22 d. : pranešimų tezės / Vilniaus universitetas. Medicinos fakultetas; leidinį sudarė Simona Kildienė. Vilnius : Vilniaus universiteto leidykla, 2020. ISBN 9786090704103. p. 265. DOI: 10.15388/Proceedings.2020.1.
7 Naudžiūnaitė, Simona; Burnytė, Birutė (temos vadovas). Hereditary neuropathy with liability to pressure palsies: clinical case series // Juvenes Pro Medicina 2020 : 16th international and 58th Polish conference, 15-16th May 2020 : the book of abstract. Łódź : Medical University of Łódź, 2020. ISBN 9788394762735. p. 135. Prieiga per internetą: <http://jpm.umed.pl/pliki/abstractbook/JuvenesProMedicina-2020.pdf> [žiūrėta 2020-05-27].
8 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>.
9 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>.
10 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>.
11 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].
12 Naudžiūnaitė, Simona; Bunevičiūtė, Ramunė; Burnytė, Birutė. Pacientų, sergančių paveldima neuropatija su polinkiu į suspaudimo paralyžius, atvejų analizė // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2020, t. 24, Nr. 4, p. 366-372. DOI: 10.29014/ns.2020.46. [DB: Academic Search Ultimate]
13 Gegieckienė, Rūta; Barysienė, Jūratė; Černiauskienė, Vilija; Mikštienė, Violeta; Burnytė, Birutė; Kinčinienė, Odeta. Catecholaminergic polymorphic ventricular tachycardia in association with a novel mutation in the RYR2 gene // International Congress Brain, Heart & Kidney 2020 : abstract book : October 22-24, 2020, Vilnius, Lithuania / Lithuanian Neurologists Association. Vilnius : Lithuanian Neurologists Association, 2020. ISBN 9786099618500. p. 60.

2019
1 Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnytė, Birutė; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Häberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Möslinger, D.; Müller-Wieland, D.; Murphy, E.; Õunap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; De Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T. The natural history of classic galactosemia: Lessons from the GalNet registry // Orphanet journal of rare diseases. London : BioMed Central Ltd. eISSN 1750-1172. 2019, vol. 14, art. no 86, p. [1-11]. DOI: 10.1186/s13023-019-1047-z. [DB: Embase, MEDLINE, PubMed, Scopus, Science Citation Index Expanded (Web of Science)]
2 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)]
3 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)]
4 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)]
5 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)]
6 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)]
7 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].
8 Jasionytė, Gabija; Bunevičiūtė, Ramunė (temos vadovas); Burnytė, Birutė (temos vadovas). A novel mutation of the HINT1 gene associated with autosomal recessive axonal neuropathy with neuromyotonia: a case report // 14th Bialystok international medical congress for young scientists, May 17-18th 2019 : book of abstracts. Białystok : Medical University of Bialystok, 2019. ISBN 9788395207501. p. 247. Prieiga per internetą: <http://bimc.umb.edu.pl/wp-content/uploads/2019/05/14th-BIMC-Book-of-Abstracts.pdf> [žiūrėta 2020-04-14].
9 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)]
10 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)]
11 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)]
12 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)]
13 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)]

2018
1 Tesi, Bianca; Rascon, Jelena; Chiang, Samuel; Burnytė, Birutė; Löfstedt, Alexandra; Fasth, Anders; Heizmann, Miriam; Juozapaitė, Sandra; Kiudelienė, Rosita; Kvedaraitė, Eglė; Misevičienė, Valdonė; Mulevičienė, Audronė; Müller, Martha-Lena; Nordenskjöld, Magnus; Matuzevičienė, Reda; Samaitienė, Rūta; Speckmann, Carsten; Stankevičienė, Sigita; Žėkas, Vytautas; Voss, Matthias; Ehl, Stephan; Vaičienė-Magistris, Nerija; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T. A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation // Journal of allergy and clinical immunology. New York : Mosby-Elsevier. ISSN 0091-6749. eISSN 1097-6825. 2018, vol. 142, no. 1, p. 317-321. DOI: 10.1016/j.jaci.2018.02.031. [DB: Scopus, Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 14.110; AIF: 4.730; Q1 (2018 InCities JCR SCIE)]
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 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]
4 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]
5 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]
6 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]
7 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)]
8 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].
9 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].
10 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].
11 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].
12 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].
13 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]
14 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)]
15 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.
16 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)]
17 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 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].
2 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)]
3 Navikienė, Jūratė; Kalinauskienė, Olga; Šlepikienė, Rita; Strupienė, Laima; Liubšys, Arūnas; Burnytė, Birutė; Samaitienė, Rūta. Two cases of age related epilepsy syndromes at the neonatal intensive care unit // 14th Conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : program and abstracts. Riga : Baltic Child Neurology Association. 2017, p. 40.
4 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.
5 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.
6 Juozapaitė, Sandra; Praninskienė, Rūta; Burnytė, Birutė; Ambrozaitytė, Laima; Skerlienė, Birutė. Novel mutation in a patient with late onset GLUT1 deficiency syndrome // Brain & development. Amsterdam : Elsevier. ISSN 0387-7604. eISSN 1872-7131. 2017, Vol. 39, Iss. 4, p. 352-355. DOI: 10.1016/j.braindev.2016.11.007. [DB: Scopus, PsycInfo, MEDLINE, Embase, Science Citation Index Expanded (Web of Science)] [IF: 1.544; AIF: 3.502; Q4 (2017 InCities JCR SCIE)]
7 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]
8 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].
9 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].
10 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].
11 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].
12 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].
13 Rubio-Gozalbo, M. E.; Bosch, A. M.; Burlina, A.; Berry, G. T.; Treacy, E. P.; Burnytė, Birutė (tyrėjas). The galactosemia network (GalNet) // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. eISSN 1573-2665. 2017, Vol. 40, no 2, p. 169-170. DOI: 10.1007/s10545-016-9989-y). [DB: Science Citation Index Expanded (Web of Science), Scopus, Embase, MEDLINE] [IF: 4.092; AIF: 3.722; Q1 (2017 InCities JCR SCIE)]
14 Pečiulienė, Skaistė; Burnytė, Birutė; Kalinauskienė, Olga; Garunkštienė, Rasa; Liubšys, Arūnas. Sėkmingas klevų sirupo šlapime ligos gydymas pertraukiamąja hemodiafiltracija. Klinikinis atvejis ir literatūros apžvalga = Successful treatment of maple syrup urine disease with intermittent hemodiafiltration. Clinical case presentation and literature review // Lietuvos akušerija ir ginekologija. Kaunas : Vitae litera. ISSN 1392-5091. 2017, t. 20, Nr. 4, p. 296-299. Prieiga per internetą: <http://zurnalai.vitaelitera.lt/eb/1658/lietuvos-akuserija-ir-ginekologija-2017-m-nr-4/> [žiūrėta 2018-05-16]. [DB: Index Copernicus]
15 Krživickytė, Agnė; Kučinskaitė, Justina; Burnytė, Birutė (temos vadovas). Naujagimių, kuriems įtariama paveldima medžiagų apykaitos liga (PMAL), gydymo intensyviosios terapijos skyriuje sąnaudų analizė // Studentų mokslinės veiklos 69 konferencija, Vilnius 2017 m. gegužės 18-26d.: pranešimų tezės. Vilnius : Vilniaus universiteto leidykla, 2017. ISBN 9786094598395. eISBN 9786094598388. p. 338-339. Prieiga per internetą: <https://www.mf.vu.lt/images/vu_mf_studentu_konferencija_2017_pataisytas.pdf> [žiūrėta 2019-05-15].

2016
1 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, art. no 45, p. [1-12]. Prieiga per internetą: <http://bmcgenet.biomedcentral.com/articles/10.1186/s12863-016-0354-9> [žiūrėta 2016-03-02]. [DB: Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
2 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, p. [1-4]. 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)]
3 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, p. [1-6]. DOI: 10.1186/s12891-016-1058-z. [DB: CAB Abstracts, Current Contents, MEDLINE, PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.739; AIF: 3.110; Q2 (2016 InCities JCR SCIE)]
4 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.
5 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)]
6 Cimbalistienė, Loreta; Burnytė, Birutė; Songailienė, Jurgita; Urbonas, Vaidotas; Grabhorn, Enke; Hempel, Maja; Santer, Rene; Haack, Tobias; Prokisch, Holger. Mitochondrial infantile liver disease due to TRMU gene mutations: two cases with different outcome // Journal of inherited metabolic disease,. Dordrecht : Springer. ISSN 0141-8955. 2016, vol. 39, suppl. 1, p. S157. DOI: 10.1007/s10545-016-9969-2. [DB: Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.970; AIF: 3.746; Q1 (2016 InCities JCR SCIE)]
7 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)]
8 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)]
9 Tesi, Bianca; Rascon, Jelena; Chiang, Samuel; Löfstedt, Alexandra; Muller, Martha Lena; Burnytė, Birutė; Stankevičienė, Sigita; Vaičienė-Magistris, Nerija; Misevičienė, Valdonė; Kiudelienė, Rosita; Mulevičienė, Audronė; Juozapaitė, Sandra; Fasth, Anders; Nordenskjöld, Magnus; Henter, Jan-Inge; Bryceson, Yenan T; Meeths, Marie. Structural variants affecting the 5'UTR of RAB27A cause an atypical form of hemophagocytic lymphohistiocytosis // 17th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2016) : Barcelona, Spain, September 21-24, 2016 / European Society for Immunodeficiencies. Barcelona : European Society for Immunodeficiencies. 2016, p. 1-2, no. ESID6-0396.
10 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.
11 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.
12 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].

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 Burnytė, Birutė; Pečiulienė, Skaistė; Gudaitienė, Rymanta; Rusonienė, Skirmantė; Songailienė, Jurgita; Liubšys, Arūnas; Cimbalistienė, Loreta; Drazdienė, Nijolė. Importance of early diagnosis and start of treatment in Mevalonate Kinase Deficiency (MKD) patients // 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. 2015, Vol. 38, iss. 1, Supplement, p. 334. 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)]
3 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)]
4 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)]
5 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]
6 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: 13th International Conference of Baltic Child Neurology Association. Tartu : Eesti Arstide Liit. ISSN 0235-8026. eISSN 2228-1665. 2015, suppl. 1, p. 21. [DB: Scopus]
7 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.
8 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)]

2014
1 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)]
2 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)]
3 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)]

2013
1 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]
2 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)]

2012
1 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]
2 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)]
3 Cimbalistienė, Loreta; Burnytė, Birutė; Songailienė, Jurgita; Liaugaudienė, Olga; Kučinskas, Vaidutis. Inborn errors of metabolism (IEM) in Lithuania according to the data of center for medical genetics // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2012, Vol. 35, iss. 1, suppl. p. S167. DOI: 10.1007/s10545-012-9512-z. [DB: Embase, MEDLINE, Scopus, TOC Premier, CAB Abstracts, SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 4.070; AIF: 4.227; Q1 (2012 InCities JCR SCIE)]

2011
1 Burnytė, Birutė; Matulevičienė, Aušra; Dirsė, Vaidas; Kučinskas, Vaidutis. Inherited complex mosaicism associated with fragile site at 16q22 // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 142. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]