Patrick Edery

Mutations of the RET proto-oncogene in Hirschsprung's disease

Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan et al. · Nature · 1994 · 754 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome

Virginie Bubien, Françoise Bonnet, Véronique Brouste et al. · Journal of Medical Genetics · 2013 · 358 citations

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

Agnès Rötig, Eeva‐Liisa Appelkvist, Vanna Géromel et al. · The Lancet · 2000 · 357 citations

Inflammatory Lung Disease, Physiology, Molecular Biology +2

Diversity of <i>RET</i> proto-oncogene mutations in familial and sporadic Hirschsprung disease

Tania Attié‐Bitach, Anna Pelet, Patrick Edery et al. · Human Molecular Genetics · 1995 · 315 citations

New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

Catherine Dodé, Nathalie Le Dû, Laurence Cuisset et al. · The American Journal of Human Genetics · 2002 · 298 citations · Full text

Muckle-wells Syndrome, New Mutations, Mendelian Disorder +7