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Journal Article
Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume 
ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Tzschach, Andreas ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd
(2016).
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum. Mutat., 37 (9).
S. 847 - 865.
HOBOKEN:
WILEY.
ISSN 1098-1004
Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd
(2015).
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J. Clin. Invest., 125 (9).
S. 3585 - 3600.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Becker, Lore ORCID: 0000-0002-6890-4984, Kling, Eva, Schiller, Evelyn, Zeh, Ramona, Schrewe, Anja, Hoelter, Sabine M., Mossbrugger, Ilona, Calzada-Wack, Julia, Strecker, Valentina, Wittig, Ilka, Dumitru, Iulia, Wenz, Tina, Bender, Andreas ORCID: 0000-0002-6328-7104, Aichler, Michaela, Janik, Dirk, Neff, Frauke, Walch, Axel ORCID: 0000-0001-5578-4023, Quintanilla-Fend, Leticia, Floss, Thomas, Bekeredjian, Raffi, Gailus-Durner, Valerie, Fuchs, Helmut, Wurst, Wolfgang ORCID: 0000-0003-4422-7410, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Prokisch, Holger ORCID: 0000-0003-2379-6286, de Angelis, Martin Hrabe ORCID: 0000-0002-7898-2353 and Klopstock, Thomas
(2014).
MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy.
PLoS One, 9 (12).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Anttila, Verneri ORCID: 0000-0002-0073-4675, Stefansson, Hreinn ORCID: 0000-0002-9331-6666, Kallela, Mikko, Todt, Unda, Terwindt, Gisela M., Calafato, M. Stella, Nyholt, Dale R., Dimas, Antigone S., Freilinger, Tobias, Mueller-Myhsok, Bertram, Artto, Ville, Inouye, Michael ORCID: 0000-0001-9413-6520, Alakurtti, Kirsi, Kaunisto, Mari A., Haemaelaeinen, Eija, de Vries, Boukje, Stam, Anine H., Weller, Claudia M., Heinze, Axel, Heinze-Kuhn, Katja, Goebel, Ingrid, Borck, Guntram, Goebel, Hartmut, Steinberg, Stacy, Wolf, Christiane, Bjoernsson, Asgeir, Gudmundsson, Gretar, Kirchmann, Malene, Hauge, Anne, Werge, Thomas, Schoenen, Jean, Eriksson, Johan G., Hagen, Knut, Stovner, Lars, Wichmann, Erich, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Alexander, Michael, Moebus, Susanne, Schreiber, Stefan, Aulchenko, Yurii S., Breteler, Monique M. B., Uitterlinden, Andre G., Hofman, Albert, van Duijn, Cornelia M., Tikka-Kleemola, Paevi, Vepsaelaeinen, Salli, Lucae, Susanne, Tozzi, Federica ORCID: 0000-0002-3536-2920, Muglia, Pierandrea ORCID: 0000-0002-3973-8606, Barrett, Jeffrey, Kaprio, Jaakko ORCID: 0000-0002-3716-2455, Faerkkilae, Markus, Peltonen, Leena, Stefansson, Kari, Zwart, John-Anker, Ferrari, Michel D., Olesen, Jes ORCID: 0000-0002-6712-2702, Daly, Mark, Wessman, Maija, van den Maagdenberg, Arn M. J. M., Dichgans, Martin, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dermitzakis, Emmanouil T., Frants, Rune R. and Palotie, Aarno
(2010).
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Nature Genet., 42 (10).
S. 869 - 875.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Winterer, Georg, Mittelstrass, Kirstin, Giegling, Ina, Lamina, Claudia ORCID: 0000-0002-5398-5806, Fehr, Christoph, Brenner, Hermann ORCID: 0000-0002-6129-1572, Breitling, Lutz P., Nitz, Barbara ORCID: 0000-0001-6289-7237, Raum, Elke, Mueller, Heiko, Gallinat, Juergen, Gal, Andreas, Heim, Katharina, Prokisch, Holger ORCID: 0000-0003-2379-6286, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Hartmann, Annette M., Moeller, Hans-Juergen, Gieger, Christian ORCID: 0000-0001-6986-9554, Wichmann, H-Erich, Illig, Thomas, Dahmen, Norbert and Rujescu, Dan
(2010).
Risk Gene Variants for Nicotine Dependence in the CHRNA5-CHRNA3-CHRNB4 Cluster Are Associated With Cognitive Performance.
Am. J. Med. Genet. B, 153B (8).
S. 1448 - 1459.
HOBOKEN:
WILEY.
ISSN 1552-485X