B Delobel

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 554 citations · Full text

Obesity, Metabolic Syndrome, Childhood Obesity +9

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier et al. · Clinical Genetics · 2010 · 150 citations

Psychiatry, Scientific Data Management, Cosmology +12

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer et al. · Journal of Medical Genetics · 2010 · 107 citations · Full text

Screening of <i>SLC26A4</i> (<i>PDS</i>) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Hélène Blons, D Feldmann, Vincent Duval et al. · Clinical Genetics · 2004 · 98 citations

Identification of novel mutations in <i>WFS1</i> and genotype–phenotype correlation in Wolfram syndrome

A. Caño, Cécile Rouzier, Sophie Monnot et al. · American Journal of Medical Genetics Part A · 2007 · 76 citations

Genetics, Genetic Epidemiology, Pathology +17