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Journal Article
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
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
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
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, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114
(2016).
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
PLoS One, 11 (1).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
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
Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik
ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh
ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle
ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla
ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine
ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen
(2016).
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Neurology, 86 (23).
S. 2171 - 2179.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E. and Hildebrand, Michael S. (2018). KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. PLoS One, 13 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203
Pal, Deb K., Ferrie, Colin, Addis, Laura ORCID: 0000-0001-8455-4278, Akiyama, Tomoyuki, Capovilla, Giuseppe, Caraballo, Roberto, de Saint-Martin, Anne, Fejerman, Natalio, Guerrini, Renzo, Hamandi, Khalid
ORCID: 0000-0001-7116-262X, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Ioannides, Andreas A., Kobayashi, Katsuhiro, Lal, Dennis, Lesca, Gaetan
ORCID: 0000-0001-7691-9492, Muhle, Hiltrud, Neubauer, Bernd A., Pisano, Tiziana
ORCID: 0000-0001-8920-9078, Rudolf, Gabrielle
ORCID: 0000-0002-2050-3911, Seegmuller, Caroline, Shibata, Takashi, Smith, Anna, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Strug, Lisa J., Szepetowski, Pierre, Valeta, Thalia, Yoshinaga, Harumi and Koutroumanidis, Michalis
(2016).
Idiopathic focal epilepsies: the lost tribe.
Epileptic Disord., 18 (3).
S. 252 - 289.
MONTROUGE:
JOHN LIBBEY EUROTEXT LTD.
ISSN 1950-6945
Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Saarentaus, Elmo
ORCID: 0000-0002-8475-7187, Ravoet, Marie, De Ferrari, Giancarlo V., Nuernberg, Peter, Isidor, Bertrand, Neubauer, Bernd A. and Lal, Dennis
(2018).
Duplications at 19q13.33 in patients with neurodevelopmental disorders.
Neurol.-Genet., 4 (1).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839