Yves Alembik

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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 480 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber et al. · The American Journal of Human Genetics · 2004 · 281 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Birth prevalence rates of skeletal dysplasias

Claude Stoll, Béatrice Dott, Marie‐Paule Roth et al. · Clinical Genetics · 1989 · 239 citations

Medicine, Genetics, Obstetrics +17

Associated congenital anomalies among cases with Down syndrome

Claude Stoll, Béatrice Dott, Yves Alembik et al. · European Journal of Medical Genetics · 2015 · 239 citations

Medicine, Obstetrics, Pediatrics +14