Christian Hamel

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

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

Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

Corinne Bareil, Christian Hamel, Valérie Delague et al. · Human Genetics · 2001 · 121 citations

Photoreceptor Cell, Molecular Neuroscience, Retina +6

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

Haifa Hichri, Corinne Stoetzel, Virginie Laurier et al. · European Journal of Human Genetics · 2005 · 74 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +8

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Élise Schaefer, M. Durand, Corinne Stoetzel et al. · European Journal of Medical Genetics · 2010 · 44 citations

Biology, Genetic Analysis, Allelic Variant +13