Benoı̂t Arveiler

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

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot et al. · Journal of Medical Genetics · 2007 · 256 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia

J. Kirsty Millar, S. Christie, Susan M. Anderson et al. · Molecular Psychiatry · 2001 · 204 citations

Life Sciences, Genetics, Molecular Genetics +12

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Éric Bieth, Sanaa Eddiry, Véronique Gaston et al. · European Journal of Human Genetics · 2014 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Paquita Nurden, Najet Debili, Isabelle Coupry et al. · Blood · 2011 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10