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Stéphane Bézieau

Stéphane Bézieau

D-Index & Metrics

Genetics

D-Index
62
Citations
13954
World Ranking
2976
National Ranking
145

Overview

Stéphane Bézieau is affiliated with the University of Nantes in France. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a significant focus on Medicine as well. The subfields of study include Genetics, Molecular Biology, Pathology and Forensic Medicine, Cell Biology, and Cardiology and Cardiovascular Medicine.

Their work covers a variety of main topics, which include:

  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genetic factors in colorectal cancer
  • Genetic Associations and Epidemiology
  • Ubiquitin and proteasome pathways
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer

Stéphane Bézieau has contributed to several recent papers, illustrating a broad scope of research interests and collaboration. Notable publications are:

  • "Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk," 2020, The American Journal of Human Genetics
  • "Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development," 2020, Neuron
  • "GestaltMatcher facilitates rare disease matching using facial phenotype descriptors," 2022, Nature Genetics
  • "Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study," 2020, BMC Medicine
  • "Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility," 2022, Nature Genetics

Frequent publication venues where Stéphane Bézieau's research appears include:

  • The American Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Nature Genetics
  • UNC Libraries

Collaborations have been a significant aspect of their work, with frequent co-authors including:

  • Sébastien Küry
  • Hermann Brenner
  • Benjamin Cogné
  • Bertrand Isidor
  • Michael Hoffmeister

Best Publications

  • Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24

    Brent W. Zanke;Celia M.T. Greenwood;Celia M.T. Greenwood;Jagadish Rangrej;Rafal Kustra;Rafal Kustra

  • Identification of SLC39A4 , a gene involved in acrodermatitis enteropathica

    Sébastien Küry;Brigitte Dréno;Stéphane Bézieau;Stéphanie Giraudet

  • Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

    Connie R Bezzina;Julien Barc;Yuka Mizusawa;Carol Ann Remme

  • Discovery of common and rare genetic risk variants for colorectal cancer

    Jeroen R. Huyghe;Stephanie A. Bien;Tabitha A. Harrison;Hyun Min Kang

  • Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

    Ulrike Peters;Ulrike Peters;Shuo Jiao;Fredrick R. Schumacher;Carolyn M. Hutter;Carolyn M. Hutter

  • Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk

    Ben Zhang;Wei Hua Jia;Koichi Matsuda;Sun Seog Kweon

  • High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis.

    Stéphane Bezieau;Marie‐Claire Devilder;Hervé Avet‐Loiseau;Marie‐Paule Mellerin

  • Meta-analysis of New Genome-wide Association Studies of Colorectal Cancer Risk

    Ulrike Peters;Ulrike Peters;Carolyn M. Hutter;Li Hsu;Fredrick R. Schumacher

  • Characterization of gene-environment interactions for colorectal cancer susceptibility loci

    Carolyn M. Hutter;Jenny Chang-Claude;Martha L. Slattery;Bethann M. Pflugeisen

  • Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    Kym M. Boycott;Chandree L. Beaulieu;Kristin D. Kernohan;Ola H. Gebril

  • Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    Ashley L. Lennox;Mariah L. Hoye;Ruiji Jiang;Bethany L. Johnson-Kerner

  • Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

    Bertrand Isidor;Pierre Lindenbaum;Pierre Lindenbaum;Olivier Pichon;Stéphane Bézieau

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  • Genome-wide association study of colorectal cancer identifies six new susceptibility loci

    Fredrick R. Schumacher;Stephanie L. Schmit;Shuo Jiao;Christopher K. Edlund

  • Novel Common Genetic Susceptibility Loci for Colorectal Cancer

    Stephanie L. Schmit;Christopher K. Edlund;Fredrick R. Schumacher;Jian Gong

  • An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

    Sébastien Schmitt;Sébastien Küry;Mathilde Giraud;Brigitte Dréno

  • Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk.

    Minta Thomas;Lori C. Sakoda;Michael Hoffmeister;Elisabeth A. Rosenthal

  • A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

    E. Theodoratou;H. Campbell;A. Tenesa;R. Houlston

  • Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

    Solena Le Scouarnec;Matilde Karakachoff;Jean-Baptiste Gourraud;Pierre Lindenbaum

  • Discovery of common and rare genetic risk variants for colorectal cancer

    Jeroen R. Huyghe;Stephanie A. Bien;Tabitha A. Harrison;Hyun Min Kang

Frequent Co-Authors

Ulrike Peters
Ulrike Peters University of Washington
Jenny Chang-Claude
Jenny Chang-Claude German Cancer Research Center
John D. Potter
John D. Potter Massey University
Andrew T. Chan
Andrew T. Chan Harvard University
Hermann Brenner
Hermann Brenner German Cancer Research Center
Martha L. Slattery
Martha L. Slattery University of Utah
Graham G. Giles
Graham G. Giles University of Melbourne
Sonja I. Berndt
Sonja I. Berndt National Institutes of Health
Mark A. Jenkins
Mark A. Jenkins University of Melbourne
Emily White
Emily White Fred Hutchinson Cancer Research Center

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