Stéphanie Certain

Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease

Marina Cavazzana, Salima Hacein‐Bey, Geneviève de Saint Basile et al. · Science · 2000 · 2.6K citations

Life Sciences, Genetics, Immunology +17

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Susan E. Stepp, Rémi Dufourcq-Lagelouse, Françoise Le Deist et al. · Science · 1999 · 1.2K citations

Life Sciences, Genetics, Immunology +15

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Gaël Ménasché, Élodie Pastural, Jérôme Feldmann et al. · Nature Genetics · 2000 · 952 citations

Life Sciences, Genetics, Molecular Genetics +7

Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)

Jérôme Feldmann, Isabelle Callebaut, Graça Raposo et al. · Cell · 2003 · 927 citations · Full text

Medicine, Cell Biology, Molecular Genetics +5

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

Jérôme Feldmann, Anne‐Marie Prieur, Pierre Quartier et al. · The American Journal of Human Genetics · 2002 · 741 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10