Fügen Ersoy

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

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

Localization of an ataxia-telangiectasia gene to chromosome 11q22–23

Richard A. Gatti, İzzet Berkel, Elena Boder et al. · Nature · 1988 · 685 citations

Ataxia-telangiectasia Gene, Genetic Disorder, Genetics +4

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