Valérie Cormier‐Daire

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire et al. · American Journal of Medical Genetics Part A · 2019 · 608 citations

Life Sciences, Genetics, Molecular Genetics +11

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot, Thomas Blanc, Laureline Berteloot et al. · Nature · 2018 · 575 citations · Full text

Medicine, Molecular Medicine, Oncology +12

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 565 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations in <i>STAT3</i> and <i>IL12RB1</i> impair the development of human IL-17–producing T cells

Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe‐Santos et al. · The Journal of Experimental Medicine · 2008 · 430 citations · Full text

Life Sciences, Immunology, Infectious Diseases +17

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel et al. · The American Journal of Human Genetics · 2006 · 396 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14