Armand Bottani

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

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

High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome

Virginie Bubien, Françoise Bonnet, Véronique Brouste et al. · Journal of Medical Genetics · 2013 · 358 citations

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Maria D. Lalioti, Hamish S. Scott, Catherine Burési et al. · Nature · 1997 · 354 citations

Progressive Myoclonus Epilepsy, Genetics, Neuroscience +5

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza et al. · Genetics in Medicine · 2011 · 333 citations · Full text

Intimate Relationship, Gender Studies, Sociology +8