Marie‐Claire Vincent

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou et al. · Human Mutation · 2010 · 316 citations

Medicine, Genetics, Molecular Genetics +15

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Claire Redin, Stéphanie Le Gras, O. M'hamdi et al. · Journal of Medical Genetics · 2012 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

Marie‐Claire Vincent, Anne-Laure Pujo, David Olivier et al. · European Journal of Human Genetics · 2003 · 101 citations

Medicine, Genetics, Molecular Genetics +16

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 · 45 citations

Life Sciences, Genetics, Molecular Genetics +9

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the<i>DMD</i>Gene

Aliya Ishmukhametova, Jian‐Min Chen, Rafaëlle Bernard et al. · Human Mutation · 2013 · 33 citations

Life Sciences, Genetics, Molecular Genetics +15