Sylvie Odent

Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France

Gaëtan Lesca, Henri Plauchu, Florence Coulet et al. · Human Mutation · 2004 · 120 citations

Life Sciences, Genetics, Molecular Genetics +17

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Laurence Faivre, Philippe Gosset, Valérie Cormier‐Daire et al. · European Journal of Human Genetics · 2002 · 119 citations

Medicine, Genetics, Molecular Genetics +9

GJB2 and GJB6 Mutations

Sandrine Marlin, Delphine Feldmann, Hélène Blons et al. · Archives of Otolaryngology - Head and Neck Surgery · 2005 · 104 citations

Medicine, Genetics, Molecular Genetics +12

New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Julie Demars, Sylvie Rossignol, Irène Netchine et al. · Human Mutation · 2011 · 61 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart et al. · Journal of Medical Genetics · 2017 · 60 citations

Medicine, Genetics, Molecular Genetics +17