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Genetics
France
2024
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
90
Citations
28659
World Ranking
1073
National Ranking
37

Medicine

D-Index
92
Citations
29850
World Ranking
11346
National Ranking
347

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Claude Férec is affiliated with the University of Western Brittany in France and has a research focus at the intersection of medicine and biochemistry, genetics, and molecular biology. Their work spans multiple subfields, including surgery, genetics, molecular biology, pulmonary and respiratory medicine, and oncology.

The scientist's research topics include pancreatitis pathology and treatment, pancreatic and hepatic oncology research, cystic fibrosis research advances, gastrointestinal disorders and treatments, RNA research and splicing, genomic variations and chromosomal abnormalities, and genomics and rare diseases.

Claude Férec has published extensively in a range of journals and research venues. Frequent venues for their publications include:

  • Pancreatology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Cystic Fibrosis
  • International Journal of Molecular Sciences
  • Human Mutation

Their recent papers cover a variety of topics related to genetics and disease mechanisms. Selected publications include:

  • "The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery" (2020, Genes)
  • "Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis" (2020, Gastroenterology)
  • "Expanding ACMG variant classification guidelines into a general framework" (2022, Human Genomics)
  • "SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing" (2022, Human Mutation)
  • "Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior" (2021, Genetics in Medicine)

Frequent collaborators include Jian-Min Chen, Emmanuelle Masson, D.N. Cooper, Emmanuelle Génin, and Vinciane Rebours. This network reflects interdisciplinary cooperation across genetics and clinical research domains.

Best Publications

  • Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

    Miguel Chillón;Teresa Casals;Bernard Mercier;Lluís Bassas

  • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

    C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  • Gene conversion: mechanisms, evolution and human disease

    Jian-Min Chen;David Neil Cooper;Nadia Chuzhanova;Claude Férec

  • Type of PKD1 mutation influences renal outcome in ADPKD.

    Emilie Cornec-Le Gall;Marie-Pierre Audrézet;Marie-Pierre Audrézet;Jian-Min Chen;Jian-Min Chen;Maryvonne Hourmant

  • HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

    Catherine Mura;Odile Raguenes;Claude Férec

  • Recommendations for the classification of diseases as CFTR-related disorders

    Cristina Bombieri;M Claustres;K De Boeck;N Derichs

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

    N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

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

    Binu Porath;Vladimir G. Gainullin;Emilie Cornec-Le Gall;Emilie Cornec-Le Gall;Elizabeth K. Dillinger

  • The natural history of hereditary pancreatitis : a national series

    V. Rebours;M. C. Boutron-Ruault;M. Schnee;C. Ferec

  • The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease

    Emilie Cornec-Le Gall;Emilie Cornec-Le Gall;Marie-Pierre Audrézet;Annick Rousseau;Maryvonne Hourmant

  • Risk of Pancreatic Adenocarcinoma in Patients With Hereditary Pancreatitis: A National Exhaustive Series

    Vinciane Rebours;Marie-Christine Boutron-Ruault;Matthieu Schnee;Claude Férec

  • Variants in CPA1 are strongly associated with early onset chronic pancreatitis

    Heiko Witt;Sebastian Beer;Jonas Rosendahl;Jian Min Chen;Jian Min Chen

  • European best practice guidelines for cystic fibrosis neonatal screening

    Carlo Castellani;Kevin W. Southern;Keith Brownlee;Jeannette Dankert Roelse

  • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

  • The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection : the genetic implications for male infertility.

    Sherman J. Silber;Zsolt Nagy;Jian Liu;Herman Tournaye

  • Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

    Mireille Claustres;Caroline Guittard;Dominique Bozon;Françoise Chevalier

  • A degradation-sensitive anionic trypsinogen ( PRSS2 ) variant protects against chronic pancreatitis

    Heiko Witt;Miklós Sahin-Tóth;Olfert Landt;Jian Min Chen

  • A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

    Jian-Min Chen;Peter D. Stenson;David N. Cooper;Claude Férec

  • Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

    Julian Zielenski;Mary Corey;Richard Rozmahel;Danuta Markiewicz

  • Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

    Emilie Cornec-Le Gall;Emilie Cornec-Le Gall;Emilie Cornec-Le Gall;Rory J. Olson;Whitney Besse;Christina M. Heyer

Frequent Co-Authors

Jian-Min Chen
Jian-Min Chen University of Western Brittany
David Neil Cooper
David Neil Cooper Cardiff University
Milan Macek
Milan Macek Charles University
Philip M. Farrell
Philip M. Farrell University of Wisconsin–Madison
Thierry Bienvenu
Thierry Bienvenu Université Paris Cité
Nadia Chuzhanova
Nadia Chuzhanova Nottingham Trent University
Pier Franco Pignatti
Pier Franco Pignatti University of Verona

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