Caroline Bénech

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

Marie‐Pierre Audrézet, Émilie Cornec-Le Gall, Jian‐Min Chen et al. · Human Mutation · 2012 · 178 citations

Medicine, Genetics, Molecular Genetics +17

A small de novo 16q24.1 duplication in a woman with severe clinical features

Sylvia Redon, Caroline Bénech, Séverine Audebert‐Bellanger et al. · European Journal of Medical Genetics · 2013 · 42 citations

Life Sciences, Genetics, Molecular Genetics +12

Identification of 12 novel <i>RHD</i> alleles in western France by denaturing high‐performance liquid chromatography analysis

Cédric Le Maréchal, Christine Guerry, Caroline Bénech et al. · Transfusion · 2007 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17

High-Throughput Analysis of Promoter Occupancy Reveals New Targets for Arx, a Gene Mutated in Mental Retardation and Interneuronopathies

Marie-Lise Quillé, Solenne Carat, Sylvia Redon et al. · PLoS ONE · 2011 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier et al. · American Journal of Medical Genetics Part A · 2022 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17