Nathalie Delphin

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

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

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

Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1

Christophe Goujon, Véronique Schneider, Jaouad Grofti et al. · Journal of Virology · 2000 · 68 citations · Full text