Xavier Gérard

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Xavier Gérard, Isabelle Perrault, Sylvain Hanein et al. · Molecular Therapy — Nucleic Acids · 2012 · 102 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing et al. · The American Journal of Human Genetics · 2013 · 101 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodi D. Metodiev, S. Gerber, Laurence Hubert et al. · Journal of Medical Genetics · 2014 · 93 citations

Life Sciences, Genetics, Molecular Genetics +17

Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathy

S. Gerber, Martina G. Ding, Xavier Gérard et al. · Journal of Medical Genetics · 2016 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

Romain Luscan, Sabrina Méchaussier, Antoine Paul et al. · The American Journal of Human Genetics · 2017 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7