Publication
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A. de Man, Heidi Cope, Vandana Shashi, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M. van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frédéric Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M. B. H. van de Laar, Marjon A. van Slegtenhorst, Philippe M. Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J. Louie, Michael J. Lyons, Amy Dobson, Astrid S. Plomp, M. Mahdi Motazacker, Frank J. Kaiser, Andrew T. Timberlake, Sabine A. Fuchs, Christel Depienne, Cyril Mignot
Human Genetics, May 2021, Springer Science + Business Media
DOI: 10.1007/s00439-021-02283-2