VU Medicinos fakulteto autoriaus 'Birutė Tumienė' publikacijų sąrašas

2022
1 Tumienė, Birutė; Ferreira, Carlos R.; van Karnebeek, Clara D. M. 2022 overview of metabolic epilepsies // Genes. Basel : MDPI. eISSN 2073-4425. 2022, vol. 13, no. 3, art. no. 508, p. [1-20]. DOI: 10.3390/genes13030508. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)]
2 Tumienė, Birutė; del Toro Riera, Mireia; Grikinienė, Jurgita; Samaitienė-Aleknienė, Rūta; Praninskienė, Rūta; Ardeshir Monavari, Ahmad; Sykut-Cegielska, Jolanta. Multidisciplinary care of patients with inherited metabolic diseases and epilepsy: current perspectives // Journal of multidisciplinary healthcare. Auckland : Dove Medical Press Ltd. ISSN 1178-2390. 2022, vol. 15, p. 553-566. DOI: 10.2147/JMDH.S251863. [DB: Scopus, Science Citation Index Expanded (Web of Science)]
3 Mazgelytė, Eglė; Naskauskienė, Gintarė; Tumienė, Birutė; Ambrozaitytė, Laima; Visockienė, Žydrūnė. Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in Lithuania: a single centre study // Lietuvos endokrinologija. Kaunas : Lietuvos sveikatos mokslų universiteto Endokrinologijos institutas, Lietuvos endokrinologų draugija. ISSN 1392-7213. 2022, t. 31, Nr. 3-4, p. 71.
4 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: Scopus, Science Citation Index Expanded (Web of Science)]
5 Jackevičiūtė, Sofija; Praninskienė, Rūta; Tumienė, Birutė; Grikinienė, Jurgita. Neurologic manifestation of ATP1A3 mutation // 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. [1].

2021
1 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: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 11.043; AIF: 4.682; Q1 (2021 InCities JCR SCIE)]
2 Koko, Mahmoud; Krause, Roland; Sander, Thomas; Bobbili, Dheeraj Reddy; Nothnagel, Michael; May, Patrick; Lerche, Holger; Feng, Yen-Chen Anne; Howrigan, Daniel P; Abbott, Liam E; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L; Dhindsa, Ryan S; Stanley, Kate E; Cavalleri, Gianpiero L; Hakonarson, Hakon; Helbig, Ingo; Weckhuysen, Sarah; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M; Cossette, Patrick; Cotsapas, Chris; DeJonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J; Scheffer, Ingrid E; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M; Bellows, Susannah T; Leu, Costin; Bennett, Caitlin A; Johns, Esther M C; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M; Sadoway, Tara R; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S; Kousiappa, Ioanna; Tanteles, George A; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S; Knake, Susanne; Kunz, Wolfram S; Zsurka, Gábor; Elger, Christian E; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; vanBaalen, Andreas; vonSpiczak, 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; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F; Steinhoff, Bernhard J; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggräfe, Ingo; Schankin, Christoph J; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark I; Chung, Seo-Kyung; Pickrell, William O; Powell, Robert; 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; Barišić, Nina; Delanty, Norman; Doherty, Colin P; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumienė, Birutė; Sadleir, Lynette G; King, Chontelle; Mountier, Emily; Caglayan, Hande S; Arslan, Mutluay; Yapıcı, Zuhal; Yis, Uluc; Topaloglu, Pınar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Poduri, Annapurna; Shiedley, Beth R; Shain, Catherine; 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; Khankhanian, Pouya; Helbig, Katherine L; Ellis, Colin A; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T; Pato, Carlos N; Bromet, Evelyn J; Carvalho, Celia Barreto; Achtyes, Eric D; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S; Malaspina, Dolores; Marder, Stephen R; Medeiros, Helena; Morley, Christopher P; Perkins, Diana O; Sobell, Janet L; Buckley, Peter F; Macciardi, Fabio; Rapaport, Mark H; Knowles, James A; Cohort, Genomic Psychiatry; Fanous, Ayman H; McCarroll, Steven A; Gupta, Namrata; Gabriel, Stacey B; Daly, Mark J; Lander, Eric S; Lowenstein, Daniel H; Goldstein, David B; Berkovic, Samuel F; Neale, Benjamin M. Distinct gene-set burden patterns underlie common generalized and focal epilepsies // eBioMedicine. Amsterdam : Elsevier BV. ISSN 2352-3964. eISSN 2352-3964. 2021, vol. 72, art. no. 103588, p. [1-13]. DOI: 10.1016/j.ebiom.2021.103588. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 11.205; AIF: 5.629; Q1 (2021 InCities JCR SCIE)]
3 Stevelink, Remi; Luykx, Jurjen J.; Lin, Bochao D.; Leu, Costin; Lal, Dennis; Smith, Alexander W.; Schijven, Dick; Carpay, Johannes A.; Rademaker, Koen; Rodrigues Baldez, Roiza A.; Devinsky, Orrin; Braun, Kees P. J.; Jansen, Floor E.; Smit, Dirk J. A.; Koeleman, Bobby P. C.; Abou‐Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; Haan, Gerrit‐Jan; De Jonghe, Peter; Kovel, Carolien G. F.; Delanty, Norman; Depondt, Chantal; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson, Johan G.; Ferraro, Thomas N.; Feucht, Martha; Francis, Ben; Franke, Andre; French, Jacqueline A.; Freytag, Saskia; Gaus, Verena; Geller, Eric B.; Gieger, Christian; Glauser, Tracy; Glynn, Simon; Goldstein, David B.; Gui, Hongsheng; Guo, Youling; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andrés; Jamnadas‐Khoda, Jennifer; Johnson, Michael R.; Kälviäinen, Reetta; Kantanen, Anne‐Mari; Kasperavičiūte, Dalia; Kasteleijn‐Nolst Trenite, Dorothee; Kirsch, Heidi E.; Knowlton, Robert C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Kuzniecky, Ruben; Kwan, Patrick; Lau, Yu‐Lung; Lehesjoki, Anna‐Elina; Lerche, Holger; Lieb, Wolfgang; Lindhout, Dick; Lo, Warren D.; Lopes‐Cendes, Iscia; Lowenstein, Daniel H.; Malovini, Alberto; Marson, Anthony G.; Mayer, Thomas; McCormack, Mark; Mills, James L.; Mirza, Nasir; Moerzinger, Martina; Møller, Rikke S.; Molloy, Anne M.; Muhle, Hiltrud; Newton, Mark; Ng, Ping‐Wing; Nöthen, Markus M.; Nürnberg, Peter; O’Brien, Terence J.; Oliver, Karen L.; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slavé; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; Reif, Philipp S.; Reinthaler, Eva M.; Rosenow, Felix; Sander, Josemir W.; Sander, Thomas; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Sham, Pak C.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Slattery, Lisa; Smith, David F.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Tan, K. Meng; Thio, Liu Lin; Thomas, G. Neil; Todaro, Marian; Tozzi, Rossana; Vari, Maria S.; Vining, Eileen P. G.; Visscher, Frank; Spiczak, Sarah; Walley, Nicole M.; Weber, Yvonne G.; Wei, Zhi; Mameniškienė, Rūta; Weisenberg, Judith; Whelan, Christopher D.; Widdess‐Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico; Zimprich, Fritz; Feng, Yen‐Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Churchhouse, Claire; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Neale, Benjamin M.; Cotsapas, Chris; Dixon‐Salazar, Tracy; Guerrini, Renzo; Kamalakaran, Sitharthan; Stewart, Randy; Weckhuysen, Sarah; Freyer, Catharine; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Bennett, Caitlin A.; Johns, Esther M.C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; O'Brien, Terence J.; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Knake, Susanne; Zsurka, Gábor; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Rademacher, Annika; Baalen, Andreas; 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; Maisch, Ana F.; Schulze‐Bonhage, Andreas; Schubert‐Bast, Susanne; Schreiber, Herbert; Borggräfe, Ingo; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Rees, Mark I.; Chung, Seo‐Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Baum, Larry W.; Lui, Colin H.T.; Barišić, Nina; Shukralla, Arif; El‐Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Madia, Francesca; Stella Vari, Maria; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumienė, Birutė; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapıcı, Zuhal; Yis, Uluc; Topaloglu, Pınar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu‐Eken, Aslı; Bebek, Nerses; Uğur‐İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Lo, Warren; Schachter, Steven; Kuzniecky, Ruben I.; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Baldez, Roiza A. Rodrigues. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations // Epilepsia. Hoboken : John Wiley and Sons Inc. ISSN 0013-9580. eISSN 1528-1167. 2021, vol. 62, iss. 7, p. 1518-1527. DOI: 10.1111/epi.16922. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 6.740; AIF: 4.714; Q1 (2021 InCities JCR SCIE)]
4 Markevičiūtė, Medeinė Šilenė; Tumienė, Birutė (temos vadovas). A case of X-linked adrenoleukodystrophy: diagnostic challenges // BIMCO journal : abstract book of the congress BIMCO, 2021. Chernivtsi : Bukovinian State Medical University. ISSN 2616-5392. 2021, p. 122. Prieiga per internetą: <https://bim.co.ua/wp-content/uploads/2021/04/BIMCO-Journal.pdf>.
5 Tumienė, Birutė; Graessner, Holm; Mathijssen, Irene M. J.; Pereira, Alberto M.; Schaefer, Franz; Scarpa, Maurizio; Blay, Jean-Yves; Dollfus, Helene; Hoogerbrugge, Nicoline. European Reference Networks: challenges and opportunities // Journal of community genetics. Heidelberg : Springer Heidelberg. ISSN 1868-310X. eISSN 1868-6001. 2021, vol. 12, iss. 2, p. 217-229. DOI: 10.1007/s12687-021-00521-8. [DB: PubMed Central, ProQuest Central, Embase, Scopus, Emerging Sources Citation Index (Web of Science)]
6 Tumienė, Birutė; Kristoffersson, Ulf; Hedley, Victoria; Kaariainen, Helena. Rare diseases: past achievements and future prospects // Journal of community genetics. Heidelberg : Springer Heidelberg. ISSN 1868-310X. eISSN 1868-6001. 2021, vol. 12, iss. 2, p. 205-206. DOI: 10.1007/s12687-021-00529-0. [DB: ProQuest Central, Embase, Dimensions, Scopus, Emerging Sources Citation Index (Web of Science)]
7 Tumienė, Birutė; Graessner, Holm. Rare disease care pathways in the EU: from odysseys and labyrinths towards highways // Journal of community genetics. Heidelberg : Springer Heidelberg. ISSN 1868-310X. eISSN 1868-6001. 2021, vol. 12, iss. 2, p. 231-239. DOI: 10.1007/s12687-021-00520-9. [DB: ProQuest Central, PubMed Central, Embase, Dimensions, Scopus, Emerging Sources Citation Index (Web of Science)]

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: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
2 Heard, Jean-Michel; Vrinten, Charlotte; Schlander, Michael; Bellettato, Cinzia Maria; Van Lingen, Corine; Scarpa, Maurizio; Matthijs, Gert; Nassogne, Marie-Cécile; Debray, François-Guillaume; Roland, Dominique; Chamova, Teodora; Kozich, Viktor; Pavel, Jesina; Zenker, Martin; Lampe, Christina; Das, Anihb Martin; Hennermann, Julia; Kölker, Stefan; Weinhold, Natalie; Mohnike, Klaus; Gruenert, Sarah; Lund, Allan Meldgaard; Morales-Conejo, Montserrat; Del Toro-Riera, Mireia; Aldámiz-Echevarría, Luis; Garcia-Silva, Maria-Teresa; Schiff, Manuel; Gouya, Laurent; De Lonlay, Pascale; Belmatoug, Nadia; Germain, Dominique P.; Cano, Aline; Dobbelaere, Dries; Jones, Simon; Dawson, Charlotte; Deegan, Patrick; Santra, Saikat; Vijay, Suresh; Petkovic Ramadza, Danijela; Barić, Ivo; Žigman, Tamara; Pflieger, György; Szakszon, Katalin; Kaposta, Rita; Gasperini, Serena; Burlina, Alberto; Parenti, Giancarlo; Strisciuglio, Pietro; Ceccarini, Giovanni; Federico, Antonio; Simonati, Alessandro; Tumienė, Birutė; Huidekoper, Hidde; Van Spronsen, Francian; Bosch, Annet; Rubio-Gozalbo, Maria-Estela; Visser, Gepke; Tangeraas, Trine; Aarsand, Aasne; Kieć-Wilk, Beata; Mendes Gaspar, Ana-Maria Simões; Quelhas, Dulce; Leao-Teles, Elisa; Azevedo, Olga; Rodriges Silva, Esmeralda-Maria Ferreira; De Abreu Freire, Luísa-Maria Diogo Matos; Martins, Esmeralda; Lajic, Svetlana; Darin, Niklas; Groselj, Urh; Tansek, Mojca-Zerjav. Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network // Orphanet journal of rare diseases. London : BMC. eISSN 1750-1172. 2020, vol. 15, no. 1, art. no. 3, p. [1-7]. DOI: 10.1186/s13023-019-1280-5. [DB: Scopus, Science Citation Index Expanded (Web of Science)]
3 Tumas, Jaroslav; Tumienė, Birutė; Jurkevičienė, Jolita; Jasiūnas, Eugenijus; Šileikis, Audrius. Nutritional and immune impairments and their effects on outcomes inearly pancreatic cancer patients undergoing pancreatoduodenectomy // Clinical nutrition : Elsevier. ISSN 0261-5614. eISSN 1532-1983. 2020, vol. 39, no. 11, p. 3385-3394. DOI: 10.1016/j.clnu.2020.02.029. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 7.325; AIF: 4.896; Q1 (2020 InCities JCR SCIE)]
4 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>.
5 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: Embase, BIOSIS Previews, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 13.501; AIF: 4.552; Q1 (2020 InCities JCR SCIE)]

2019
1 Tumienė, Birutė (tyrėjas). Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals // American journal of human genetics. Cambridge, MA : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2019, vol. 105, no. 2, p. 267-282. DOI: 10.1016/j.ajhg.2019.05.020. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 10.502; AIF: 4.091; Q1 (2019 InCities JCR SCIE)]
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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
3 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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
4 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: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 11.337; AIF: 3.777; Q1 (2019 InCities JCR SCIE)]
5 Tumienė, Birutė; Bros-Facer, V.; Carta, C.; Favresse, R.; Bonnaud, E.; Graessner, H.; Chrzanowska, K.; Maiella, S.; Matthijs, G.; Wang, C. M.; Papadopoulou, A.; Julkowska, D. Capacity building and empowerment program in European Joint Program on Rare Diseases: time to address unmet needs in rare disease research education and training // 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. P19.30A, p. 1792. 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)]
6 Tumienė, Birutė. Capacity building and empowerment program in European Joint Program on Rare Diseases: time to address unmet needs in rare disease research education and training // Febs Open Bio: 44th FEBS Congress, From Molecules to Living Systems, Krakow, Poland, July 6‐11, 2019. Hoboken : Wiley. ISSN 2211-5463. 2019, vol. 9, suppl. 1, art. no. S-18-3, p. 32. DOI: 10.1002/2211-5463.12674. [DB: Science Citation Index Expanded (Web of Science)] [IF: 2.231; AIF: 4.696; Q3 (2019 InCities JCR SCIE)]
7 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)]
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 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)]
9 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)]

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 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.
3 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]
4 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: Science Citation Index Expanded (Web of Science), Science Citation Index, MEDLINE, Scopus, Embase, BIOSIS Previews, Elsevier Biobase, Current Contents] [IF: 2.411; AIF: 4.142; Q3 (2018 InCities JCR SCIE)]
5 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].
6 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].
7 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].
8 Tumienė, Birutė; Maver, A.; Writzl, K.; Hodžić, A.; Čuturilo, G.; Kuzmanić-Šamija, R.; Čulić, V.; Peterlin, B. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice // Clinical genetics. Hoboken : Wiley-Blackwell Publishing, Inc. ISSN 0009-9163. eISSN 1399-0004. 2018, vol. 93, p. 1057-1062. DOI: 10.1111/cge.13203. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 4.104; AIF: 3.940; Q1 (2018 InCities JCR SCIE)]
9 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)]

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: Science Citation Index Expanded (Web of Science), MEDLINE, Current Contents, PubMed, Scopus, Embase, Current Abstracts, Academic Search Premier, Academic Search Complete] [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: MEDLINE, BIOSIS Previews, Academic Search Premier, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.004; AIF: 3.953; Q3 (2017 InCities JCR SCIE)]
3 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]
4 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]
5 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: MEDLINE, Embase, BIOSIS Previews, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.756; AIF: 3.757; Q3 (2017 InCities JCR SCIE)]
6 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].
7 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].
8 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].
9 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].

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, p. art. no 45 [1-12]. DOI: 10.1186/s12863-016-0354-9. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
2 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.
3 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.
4 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.

2015
1 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: Science Citation Index Expanded (Web of Science), Scopus, CAB Abstracts, CSA (nenaudotinas), MEDLINE, TOC Premier]
2 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: Scopus, INIS Atomindex (nenaudotinas)]
3 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.
4 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.
5 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]
6 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)]
7 Jonuškaitė, Dovilė; Tumienė, Birutė; Čerkauskienė, Rimantė. Spina bifida ir hidrocefalija: naujai atrastos senos tiesos // Pediatrija. Vilnius : Gamta. ISSN 1648-4630. 2015, Nr. 1, p. 4-14.
8 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)]
9 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: Science Citation Index Expanded (Web of Science), EBSCOHost (nenaudotinas), MEDLINE] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]

2014
1 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].
2 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: Index Copernicus, Current Abstracts, TOC Premier]
3 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: Index Copernicus, Current Abstracts, TOC Premier]

2013
1 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]
2 Samaitienė, Rūta; Norkūnienė, Jolita; Tumienė, Birutė; Grikinienė, Jurgita. Sleep and behavioral problems in rolandic epilepsy // Pediatric neurology. Philadelphia : Elsevier Inc. ISSN 0887-8994. 2013, vol. 48, iss. 2, p. 115-122. DOI: 10.1016/j.pediatrneurol.2012.10.012. [DB: Embase, TOC Premier, Scopus, MEDLINE, Elsevier Biobase, CABI Abstracts Databases, Science Citation Index Expanded (Web of Science)] [IF: 1.504; AIF: 2.557; Q3 (2013 InCities JCR SCIE)]

2012
1 Tumienė, Birutė (vertėjas); Urbonas, Vaidotas (vertėjas). Vaikų gastroenterologija / Warren P. Bishop ; vertėjai Birutė Tumienė, Vaidotas Urbonas. Vilnius : UAB "Vaistų žinios", 2012. 480 p. ISBN 9789955884484.
2 Čerkauskienė, Rimantė; Tumienė, Birutė; Medzevičienė, Aina; Songailienė, Jurgita. Pirmasis hiperoksalurijos I tipo kūdikių formos atvejis Lietuvoje = The first case of infantile form primary hyperoxaluria type 1 in Lithuania // Medicinos teorija ir praktika. Vilnius : Medicinos mintis. ISSN 1392-1312. 2012, t. 18, nr. 1, p. 108-112. Prieiga per internetą: <http://www.mtp.lt/files/medicina_t_p_2012_1_str17.pdf> [žiūrėta 2012-04-03]. [DB: Index Copernicus]
3 Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Tumienė, Birutė; Patsalis, Philippos C.; Kučinskas, Vaidutis. Clinical and molecular characterization of a second case of 7p22.1 microduplication // American journal of medical genetics. Part A. New York : Wiley-Liss, Inc. ISSN 1552-4825. 2012, Vol. 158A, iss. 5, p. 1200-1203. DOI: 10.1002/ajmg.a.35300. [DB: Wiley InterScience, Science Citation Index Expanded (Web of Science), MEDLINE, BIOSIS Previews] [IF: 2.304; AIF: 4.484; Q3 (2012 InCities JCR SCIE)]
4 Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Tumienė, Birutė; Patsalis, Philippos C.; Kučinskas, Vaidutis. A second case of 7p22.1 microduplication: clinical and molecular characterization // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2012, vol. 20, suppl. 1, p. 53. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.319; AIF: 4.379; Q1 (2012 InCities JCR SCIE)]

2011
1 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: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
2 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: Embase, Scopus, PubMed, MEDLINE, CABI Abstracts Databases, Science Citation Index Expanded (Web of Science)] [IF: 2.518; AIF: 2.399; Q1 (2011 InCities JCR SCIE)]
3 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: Embase, PubMed, MEDLINE, Scopus, CABI Abstracts Databases, Science Citation Index Expanded (Web of Science)] [IF: 2.518; AIF: 2.399; Q1 (2011 InCities JCR SCIE)]

2010
1 Samaitienė, Rūta; Tumienė, Birutė; Palionis, Darius; Grikinienė, Jurgita; Valevičienė, Nomeda Rima; Songailienė, Jurgita; Petroška, Donatas; Kučinskas, Vaidutis. Leigh sindromas: mitochondrinė liga dėl piruvato dehidrogenazės trūkumo, literatūros apžvalga ir atvejo aprašymas = Leigh syndrome: mitochondrial disease due to pyruvate dehydrogenase deficiency, literature survey and case report // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2010, t. 14, nr. 3, p. 156-166. Prieiga per internetą: <http://www.neuroseminarai.lt/wp-content/uploads/2017/02/Neuro_2010_Nr3_156-166.pdf> [žiūrėta 2010-11-08]. [DB: Index Copernicus]
2 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: Science Citation Index Expanded (Web of Science), SpringerLink] [IF: 3.808; AIF: 4.373; Q2 (2010 InCities JCR SCIE)]

2009
1 Tumienė, Birutė; Drazdienė, Nijolė; Kučinskas, Vaidutis; Dallapiccola, B. Congenital craniolacunia without any associated developmental defect // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2009, vol. 17, suppl. 2, p. 60. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2009Abstracts.pdf> [žiūrėta 2018-11-21]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.564; AIF: 4.368; Q2 (2009 InCities JCR SCIE)]
2 Tumienė, Birutė; Kučinskas, Vaidutis. Paveldimi kreatino apykaitos sutrikimai = Inherited disorders of creatine metabolism // Laboratorinė medicina. Vilnius : Laboratorinės diagnostikos centras. ISSN 1392-6470. 2009, t. 11, nr. 4, p. 223-230. Prieiga per internetą: <http://zurnalas.llmd.lt/lt/system/files/8688849135acb68dc56cabae0146ce11f87be187d.pdf>. [DB: Index Copernicus]
3 Tumienė, Birutė; Lankutis, Kęstutis; Kučinskas, Vaidutis; Hatchwell, E.; Toriello, H. A case of Toriello-Carey syndrome corpus callosum agenesis with other congenital defects // 10th international conference of Baltic child neurology association, May 6-9, 2009 : abstracts. Tartu : Baltic child neurology association. 2009, [1 p.].
4 Kutuzova, Olga; Tumienė, Birutė; Valevičienė, Nomeda; Grikinienė, Jurgita; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Beck, Michael. A case of infantile Krabbe disease: clinical, radiological and laboratory findings // 10th international conference of Baltic child neurology association, May 6-9, 2009 : abstracts. Tartu : Baltic child neurology association. 2009, [1 p.].
5 Tumienė, Birutė; Drazdienė, Nijolė; Kučinskas, Vaidutis; Dallapiccola, B. Congenital craniolacunia without associated developmental defect // 10th international conference of Baltic child neurology association, May 6-9, 2009 : abstracts. Tartu : Baltic child neurology association. 2009, [1 p.].

2008
1 Tumienė, Birutė; Kučinskas, Vaidutis. Retosios ligos Lietuvoje ir Europoje // Gydymo menas. ISSN 1392-527X. 2008, nr. 11, p. 18-20.

2007
1 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: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Jakutovič, Marija; Tumienė, Birutė; Songailienė, Jurgita; Kučinskas, Vaidutis. alpha-Mannosidosis presenting with two different clinical phenotypes // Journal of inherited metabolic disease. ISSN 0141-8955. 2007, vol. 30, suppl. 1, p. 112. Prieiga per internetą: <https://link.springer.com/content/pdf/10.1007%2Fs10545-007-9987-1.pdf>. [DB: Science Citation Index Expanded (Web of Science), SpringerLink] [IF: 1.668; AIF: 4.142; Q3 (2007 InCities JCR SCIE)]
3 Tumienė, Birutė; Cimbalistienė, Loreta; Jakutovič, Marija; Černiauskienė, Vilija; Songailienė, Jurgita; Czartoryska, B.; Malecka, J.; Beck, M.; Kučinskas, Vaidutis. Six cases of mucolipidoses II and III: Range of clinical severity and previously not described symptoms // Journal of inherited metabolic disease. ISSN 0141-8955. 2007, vol. 30, suppl. 1, p. 101. Prieiga per internetą: <https://link.springer.com/content/pdf/10.1007%2Fs10545-007-9987-1.pdf>. [DB: Science Citation Index Expanded (Web of Science), SpringerLink] [IF: 1.668; AIF: 4.142; Q3 (2007 InCities JCR SCIE)]
4 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: MEDLINE, DOAJ, Index Copernicus]

2006
1 Cimbalistienė, Loreta; Šliužas, Vytautas; Tumienė, Birutė; Kučinskas, Vaidutis. Two different chromosomal anomalies in siblings: Klinefelter syndrome and del(18)(q21) // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2006, vol. 14, suppl. 1, p. 113. [IF: 3.697; AIF: 4.370; Q2 (2006 InCities JCR SCIE)]

2005
1 Cimbalistienė, Loreta; Vasiliauskienė, I.; Tumienė, Birutė; Kučinskas, Vaidutis. A diagnosis of LCHAD deficiency made 8 years after a child's death // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2005, vol. 13, suppl. 1, p. 88. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.251; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]