Olivier Roche

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 335 citations · Full text

Mechanobiology, Developmental Anomaly, Either Enpp1 +7

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 214 citations · Full text

Mainzer-saldino Syndrome, Mendelian Disorder, Genetic Disorder +5

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

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin et al. · Human Mutation · 2006 · 129 citations · Full text