Jean‐Paul Saraiva

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard et al. · Orphanet Journal of Rare Diseases · 2012 · 171 citations · Full text

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz, Samuel G. Jacobson, Christian Hamel et al. · The American Journal of Human Genetics · 2012 · 135 citations · Full text

Mendelian Disorder, Ophthalmology, Genetic Disorder +5

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga M. Bujakowska, Elise Orhan et al. · The American Journal of Human Genetics · 2012 · 132 citations · Full text

Ocular Disease, Developmental Biology, Mendelian Disorder +6

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant et al. · Orphanet Journal of Rare Diseases · 2015 · 114 citations · Full text

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Christel Depienne, Delphine Bouteiller, Aurélie Méneret et al. · The American Journal of Human Genetics · 2012 · 81 citations · Full text

Ophthalmology, Genetic Disorder, Motor Control +2