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Tumienė, Birutė (tyrėjas); Utkus, Algirdas (tyrėjas). Sub-genic intolerance, ClinVar, and the epilepsies: a whole-exome sequencing study of 29,165 individuals // American journal of human genetics. Cambridge, MA : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2021, vol. 108, no. 6, p. 965-982. DOI: 10.1016/j.ajhg.2021.04.009. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 11.043; AIF: 4.682; Q1 (2021 InCities JCR SCIE)] |
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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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 11.205; AIF: 5.629; Q1 (2021 InCities JCR SCIE)] |
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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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 6.740; AIF: 4.714; Q1 (2021 InCities JCR SCIE)] |
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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>. |
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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: Emerging Sources Citation Index (Web of Science), Scopus, Embase, ProQuest Central, PubMed Central] |
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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: Emerging Sources Citation Index (Web of Science), Scopus, Dimensions, Embase, ProQuest Central] |
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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: Emerging Sources Citation Index (Web of Science), Scopus, Dimensions, Embase, PubMed Central, ProQuest Central] |