Lucas Fares‐Taie

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi et al. · Nature Genetics · 2012 · 144 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +8

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

S. Gerber, Kamil J. Alzayady, Lydie Bürglen et al. · The American Journal of Human Genetics · 2016 · 144 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +7

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Sylvain Hanein, Isabelle Perrault, Olivier Roche et al. · The American Journal of Human Genetics · 2009 · 100 citations · Full text

Is Mutated, Neurodegenerative Diseases, Mendelian Disorder +7

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing et al. · The American Journal of Human Genetics · 2013 · 100 citations · Full text

Ocular Disease, Aldehyde Dehydrogenase, Ophthalmology +3

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Claire Angebault, Pierre‐Olivier Guichet, Yasmina Talmat-Amar et al. · The American Journal of Human Genetics · 2015 · 72 citations · Full text

Rtn4ip1 Cause Isolated, Mendelian Disorder, Genetic Disorder +7