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Adesoji, Oluyomi M., Schulz, Herbert, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland
ORCID: 0000-0001-9938-7126, Lerche, Holger and Nothnagel, Michael
ORCID: 0000-0001-8305-7114
(2022).
Benchmarking of univariate pleiotropy detection methods applied to epilepsy.
Hum. Mutat., 43 (9).
S. 1314 - 1333.
LONDON:
WILEY-HINDAWI.
ISSN 1098-1004
Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Krause, Roland
ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland
ORCID: 0000-0001-9938-7126, May, Patrick
ORCID: 0000-0001-8698-3770, Balling, Rudi
ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A.
(2018).
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur. J. Hum. Genet., 26 (2).
S. 258 - 265.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Brunger, Tobias, Perez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Moller, Rikke S., Schorge, Stephanie ORCID: 0000-0003-1541-5148, Zuberi, Sameer
ORCID: 0000-0002-4489-4697, Symonds, Joseph
ORCID: 0000-0002-2141-4216, Lemke, Johannes R., Brunklaus, Andreas
ORCID: 0000-0002-7728-6903, Traynelis, Stephen F., May, Patrick
ORCID: 0000-0001-8698-3770 and Lal, Dennis
(2023).
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Brain, 146 (3).
S. 923 - 935.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Du, Juanjiangmeng, Sudarsanam, Monica, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Ganna, Andrea
ORCID: 0000-0002-8147-240X, Francioli, Laurent, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Leu, Costin, Weisburd, Ben, Poterba, Tim, Nuernberg, Peter, Daly, Mark J., Palotie, Aarno, May, Patrick
ORCID: 0000-0001-8698-3770 and Lal, Dennis
(2019).
Variant Score Ranker-a web application for intuitive missense variant prioritization.
Bioinformatics, 35 (21).
S. 4478 - 4480.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2059
Elbelt, Ulf, Trovato, Alessia, Kloth, Michael, Gentz, Enno, Finke, Reinhard, Spranger, Joachim, Galas, David, Weber, Susanne, Wolf, Cristina, Koenig, Katharina, Arlt, Wiebke ORCID: 0000-0001-5106-9719, Buettner, Reinhard, May, Patrick
ORCID: 0000-0001-8698-3770, Allolio, Bruno and Schneider, Jochen G.
(2015).
Molecular and Clinical Evidence for an ARMC5 Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma.
J. Clin. Endocrinol. Metab., 100 (1).
S. E119 - 10.
WASHINGTON:
ENDOCRINE SOC.
ISSN 1945-7197
Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Asselbergh, Bob
ORCID: 0000-0003-2784-2470, Geuens, Thomas
ORCID: 0000-0002-1764-6233, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick
ORCID: 0000-0001-8698-3770, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P. J., Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van't Slot, Ruben, Nuernberg, Peter, Balling, Rudi
ORCID: 0000-0003-2902-5650, Timmerman, Vincent
ORCID: 0000-0002-2162-0933, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Suls, Arvid
ORCID: 0000-0003-0328-198X, Koeleman, Bobby P. C. and De Jonghe, Peter
(2015).
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain, 138.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Heyne, Henrike O., Baez-Nieto, David, Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Palmer, Duncan S., Brunklaus, Andreas
ORCID: 0000-0002-7728-6903, May, Patrick
ORCID: 0000-0001-8698-3770, Johannesen, Katrine M., Lauxmann, Stephan, Lemke, Johannes R., Moller, Rikke S., Perez-Palma, Eduardo, Scholl, Ute, I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J., Wang, Hao-Ran, Pan, Jen and Daly, Mark J.
(2020).
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Sci. Transl. Med., 12 (556).
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 1946-6242
Heyne, Henrike O., Singh, Tarjinder ORCID: 0000-0003-0601-6815, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick
ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Moller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis and Lemke, Johannes R.
(2018).
De novo variants in neurodevelopmental disorders with epilepsy.
Nature Genet., 50 (7).
S. 1048 - 1056.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Bruenger, Tobias, Perez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas
ORCID: 0000-0002-7728-6903, Daly, Mark J., Campbell, Arthur J., Hoksza, David
ORCID: 0000-0003-4679-0557, May, Patrick
ORCID: 0000-0001-8698-3770 and Lal, Dennis
(2023).
Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Brain, 146 (2).
S. 519 - 534.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Hoksza, David
ORCID: 0000-0003-4679-0557, Perez-Palma, Eduardo
ORCID: 0000-0003-0546-5141, May, Patrick
ORCID: 0000-0001-8698-3770, Jespersen, Jakob B., Ahmed, Shehab S., Rifat, Zaara T., Heyne, Henrike O., Rahman, M. Sohel, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J. and Lal, Dennis
(2020).
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe.
Nucleic Acids Res., 48 (W1).
S. W132 - 8.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Perez-Palma, Eduardo
ORCID: 0000-0003-0546-5141, Jespersen, Jakob B., May, Patrick
ORCID: 0000-0001-8698-3770, Hoksza, David, Heyne, Henrike O., Ahmed, Shehab S., Rifat, Zaara T., Rahman, M. Sohel
ORCID: 0000-0001-9419-6478, Lage, Kasper, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J. and Lal, Dennis
(2020).
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.
Proc. Natl. Acad. Sci. U. S. A., 117 (45).
S. 28201 - 28212.
WASHINGTON:
NATL ACAD SCIENCES.
ISSN 0027-8424
Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmueller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, Andre G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Sander, Thomas, Neubauer, Bernd A., May, Patrick
ORCID: 0000-0001-8698-3770, Lerche, Holger and Nuernberg, Peter
(2018).
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PLoS One, 13 (8).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed
ORCID: 0000-0001-9067-5017, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico
ORCID: 0000-0001-9744-5222, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Christensen, Jakob
ORCID: 0000-0002-9385-6435, Gronborg, Sabine, Scherer, Stephen W.
ORCID: 0000-0002-8326-1999, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara
ORCID: 0000-0002-4403-6342, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena
ORCID: 0000-0001-5602-2805, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Muller-Schluter, Karen, Bassan, Haim
ORCID: 0000-0003-1627-8069, Borovikov, Artem
ORCID: 0000-0001-5871-8005, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna
ORCID: 0000-0002-3835-2824, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann
ORCID: 0000-0002-1593-6149, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brunger, Tobias, May, Patrick
ORCID: 0000-0001-8698-3770, Lal, Dennis, Lederer, Damien, Rubboli, Guido
ORCID: 0000-0002-5309-2514, Heyne, Henrike O., Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger and Moller, Rikke S.
ORCID: 0000-0002-9664-1448
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Kaczmarek, Alexander Tobias, Bahlmann, Nike, Thaqi, Besarta, May, Patrick ORCID: 0000-0001-8698-3770 and Schwarz, Guenter
ORCID: 0000-0002-2118-9338
(2021).
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.
Mol. Genet. Metab., 134 (1-2).
S. 188 - 195.
SAN DIEGO:
ACADEMIC PRESS INC ELSEVIER SCIENCE.
ISSN 1096-7206
Koko, Mahmoud ORCID: 0000-0001-9512-0184, Krause, Roland
ORCID: 0000-0001-9938-7126, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick
ORCID: 0000-0001-8698-3770 and Lerche, Holger
(2021).
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
EBioMedicine, 72.
AMSTERDAM:
ELSEVIER.
ISSN 2352-3964
Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Perez-Palma, Eduardo
ORCID: 0000-0003-0546-5141, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Moller, Rikke S., Krause, Roland, Nuernberg, Peter, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno and Daly, Mark J.
(2020).
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Genome Med., 12 (1).
LONDON:
BMC.
ISSN 1756-994X
Lal, Dennis, Reinthaler, Eva M., Dejanovici, Borislav, May, Patrick ORCID: 0000-0001-8698-3770, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico
ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig
ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Krause, Roland
ORCID: 0000-0001-9938-7126, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger and Neubauer, Bernd A.
(2016).
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One, 11 (3).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina ORCID: 0000-0001-9912-3112, May, Patrick
ORCID: 0000-0001-8698-3770, Moller, Rikke S.
ORCID: 0000-0002-9664-1448 and Lal, Dennis
(2023).
Data-driven historical characterization of epilepsy-associated genes.
Eur. J. Paediatr. Neurol., 42.
S. 82 - 88.
OXFORD:
ELSEVIER SCI LTD.
ISSN 1532-2130
Maljevic, Snezana ORCID: 0000-0003-1876-5872, Moller, Rikke S., Reid, Christopher A., Perez-Palma, Eduardo
ORCID: 0000-0003-0546-5141, Lal, Dennis, May, Patrick
ORCID: 0000-0001-8698-3770 and Lerche, Holger
(2019).
Spectrum of GABA(A) receptor variants in epilepsy.
Curr. Opin. Neurol., 32 (2).
S. 183 - 191.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1473-6551
May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon
ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan
ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie
ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine
ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate
ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur
ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin
ORCID: 0000-0003-3026-3082, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi
ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven
ORCID: 0000-0002-4960-6375, Mantegazza, Massimo
ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana
ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland
ORCID: 0000-0001-9938-7126 and Lerche, Holger
(2018).
Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol., 17 (8).
S. 699 - 709.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1474-4465
Niestroj, Lisa-Marie, Du, Juanjiangmeng, Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick
ORCID: 0000-0001-8698-3770, Palotie, Aarno, Daly, Mark J., Nuernberg, Peter, Bluemcke, Ingmar and Lal, Dennis
(2018).
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Epilepsia, 59 (11).
S. 2145 - 2153.
HOBOKEN:
WILEY.
ISSN 1528-1167
Niestroj, Lisa-Marie, May, Patrick ORCID: 0000-0001-8698-3770, Artomov, Mykyta
ORCID: 0000-0001-5282-8764, Kobow, Katja
ORCID: 0000-0002-0074-2480, Coras, Roland, Perez-Palma, Eduardo
ORCID: 0000-0003-0546-5141, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Beschorner, Rudi, Weber, Yvonne G., Bluemcke, Ingmar and Lal, Dennis
(2019).
Assessment of genetic variant burden in epilepsy-associated brain lesions.
Eur. J. Hum. Genet., 27 (11).
S. 1738 - 1745.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland
ORCID: 0000-0001-9938-7126, May, Patrick
ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi
ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico
ORCID: 0000-0001-9744-5222, Maljevic, Snezana
ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther
(2017).
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain, 140.
S. 2879 - 2895.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Gramm, Marie, Nuernberg, Peter, May, Patrick
ORCID: 0000-0001-8698-3770 and Lal, Dennis
(2019).
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database.
Nucleic Acids Res., 47 (W1).
S. W99 - 7.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, May, Patrick
ORCID: 0000-0001-8698-3770, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne
ORCID: 0000-0001-6418-9592, Nuernberg, Peter, Palotie, Aarno, Daly, Mark and Lal, Dennis
(2020).
Identification of pathogenic variant enriched regions across genes and gene families.
Genome Res., 30 (1).
S. 62 - 72.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
Schubert, Julian, Siekierska, Aleksandra ORCID: 0000-0003-4907-605X, Langlois, Melanie, May, Patrick
ORCID: 0000-0001-8698-3770, Huneau, Clement, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid
ORCID: 0000-0003-0328-198X, Lemke, Johannes R., de Kovel, Carolien G. F., Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R., Sander, Thomas, Rueschendorf, Franz, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Nagel, Inga, Kohl, Bernard, Kecskes, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H., Baulac, Stephanie
ORCID: 0000-0001-6430-4693, Moller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C., Glusman, Gustavo
ORCID: 0000-0001-8060-5955, Hood, Leroy, Galas, David J., Martin, Benoit, de Witte, Peter A. M., Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Balling, Rudi
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PHILADELPHIA:
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