Patrick Edery

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

Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan et al. · Nature · 1994 · 755 citations

Medicine, Genetics, Molecular Genetics +12

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 · 369 citations

Life Sciences, Genetics, Oncology +17

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

Life Sciences, Biochemistry, Physiology +12

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 · 317 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8