M.‐P. Audrézet

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

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Claude Férec, Odile Raguénès, Rémi Salomon et al. · Journal of Medical Genetics · 1999 · 199 citations

Detection of over 98% cystic fibrosis mutations in a Celtic population

Claude Férec, M.‐P. Audrézet, Bernard Mercier et al. · Nature Genetics · 1992 · 184 citations

Molecular Diagnostic Techniques, Mendelian Disorder, Genetic Disorder +9

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling

Cédric Le Maréchal, M.‐P. Audrézet, I. Quéré et al. · Human Genetics · 2001 · 133 citations

Molecular Diagnostic Techniques, Fibrosis, Genetic Disorder +12

A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients

Emmanuelle Masson, Jian‐Min Chen, M.‐P. Audrézet et al. · PLoS ONE · 2013 · 119 citations · Full text

Genetics, Immunology, Gastroenterology +23