Christelle Golzio

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong et al. · Cell · 2014 · 820 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

Life Sciences, Genetics, Molecular Genetics +10

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Christelle Golzio, Jason R. Willer, Michael E. Talkowski et al. · Nature · 2012 · 438 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 436 citations

Life Sciences, Genetics, Molecular Genetics +10

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel, Orit Reish, Karine Proulx et al. · The American Journal of Human Genetics · 2009 · 401 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11