Jérôme Feldmann

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Gaël Ménasché, Élodie Pastural, Jérôme Feldmann et al. · Nature Genetics · 2000 · 940 citations

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +10

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 · 916 citations · Full text

Is Mutated, Lymphoid Neoplasia, Hematological Malignancy +8

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 · 738 citations · Full text

Developmental Anomaly, Rare Diseases, Polymorphonuclear Cells +12

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Gaël Ménasché, Chen Hsuan Ho, Özden Sanal et al. · Journal of Clinical Investigation · 2003 · 289 citations · Full text

Melanophilin Defect, Genetics, Pathology +18

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Gaël Ménasché, Chen Hsuan Ho, Özden Sanal et al. · Journal of Clinical Investigation · 2003 · 285 citations · Full text

Melanophilin Defect, Genetics, Pathology +18