Claude Férec

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Émilie Cornec-Le Gall, Marie‐Pierre Audrézet, Jian‐Min Chen et al. · Journal of the American Society of Nephrology · 2013 · 493 citations · Full text

Glomerular Disease, Urology, Renal Disease +15

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Binu Porath, Vladimir G. Gainullin, Émilie Cornec-Le Gall et al. · The American Journal of Human Genetics · 2016 · 448 citations · Full text

Hepatology, Disease Mechanism, Medicine +9

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 413 citations · Full text

Medicine, Chronic Disease, Diagnosis +5

HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis

Catherine Mura, Odile Raguénès, Claude Férec · Blood · 1999 · 388 citations

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11