Renaud Touraine

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

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

J.C. Kingswood, Guillaume Beaure d’Augères, Elena Belousova et al. · Orphanet Journal of Rare Diseases · 2017 · 265 citations · Full text

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina et al. · The American Journal of Human Genetics · 2007 · 256 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science · 2011 · 222 citations · Full text