de Saint Basile, Geneviève

Top Publications

Top Publications Authored or Co-Authored by "de Saint Basile, Geneviève"

• Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

  Journal of Clinical Investigation, Volume 119, No. 12, Year 2009, Citations 337
• Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

  Proceedings of the National Academy of Sciences of the United States of America, Volume 116, No. 3, Year 2019, Citations 115
• Griscelli syndrome type 2: A rare and lethal disorder

  Journal of Child Neurology, Volume 23, No. 8, Year 2008, Citations 24
• Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair differential diagnosis of the 3 types of griscelli syndrome

  Journal of Pediatric Hematology/Oncology, Volume 32, No. 6, Year 2010, Citations 15
• Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations Wolman disease presenting as FHL

  Egyptian Journal of Medical Human Genetics, Volume 17, No. 3, Year 2016, Citations 7