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 · 1.1K citations · Full text

Medicine, Genetics, Immunology +17

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 · 819 citations

Life Sciences, Genetics, Molecular Genetics +13

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 560 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 504 citations · Full text

Medicine, Hematology, Genetic Counseling +14

Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor

Laurent David, Christine Mallet, Michelle Kéramidas et al. · Circulation Research · 2008 · 411 citations · Full text

Life Sciences, Genetics, Molecular Biology +13