Sophie Dupuis‐Girod

Sustained Correction of X-Linked Severe Combined Immunodeficiency by ex Vivo Gene Therapy

Salima Hacein‐Bey‐Abina, Frédérique Carlier, Cécile Bouneaud et al. · New England Journal of Medicine · 2002 · 1K citations · Full text

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Rainer Döffinger, Asma Smahi, Christine Bessia et al. · Nature Genetics · 2001 · 817 citations

Primary Immunodeficiency, Pathogenesis, Immunology +5

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

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

Marie E. Faughnan, Johannes J. Mager, Steven W. Hetts et al. · Annals of Internal Medicine · 2020 · 467 citations

Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor

Laurent David, Christine Mallet, Michelle Kéramidas et al. · Circulation Research · 2008 · 406 citations · Full text

Developmental Biology, Angiogenesis, Bone Morphogenic Protein +13