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Genetics
France
2024
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Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
100
Citations
40965
World Ranking
748
National Ranking
18

Medicine

D-Index
104
Citations
43193
World Ranking
7012
National Ranking
215

Research.com Recognitions

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

Overview

Thierry Frebourg was affiliated with Grenoble Alpes University in France and contributed extensively to research in biochemistry, genetics, molecular biology, and medicine. Their work spanned several key areas within these fields, especially focusing on genetics and molecular biology, oncology, cancer research, and pulmonary and respiratory medicine.

The research topics covered by Frebourg included:

  • Genomics and rare diseases
  • Cancer genomics and diagnostics
  • Cancer-related molecular pathways
  • Genetic factors in colorectal cancer
  • Genomic variations and chromosomal abnormalities
  • Genetics and neurodevelopmental disorders
  • RNA research and splicing

Frebourg's publication record featured significant contributions to widely recognized journals and venues, including:

  • Annals of Oncology (6 publications)
  • European Journal of Human Genetics (5 publications)
  • Human Mutation (4 publications)
  • Journal of Medical Genetics (3 publications)
  • bioRxiv (Cold Spring Harbor Laboratory) (3 publications)

Their most recent papers included:

  • Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up, 2021, Annals of Oncology
  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation, 2021, Genetics in Medicine
  • Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up, 2021, Annals of Oncology
  • Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up, 2021, Annals of Oncology
  • Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes, 2020, European Journal of Human Genetics

Frebourg frequently collaborated with several researchers, including:

  • Gaël Nicolas (11 joint publications)
  • Kévin Cassinari (10 joint publications)
  • Gaëlle Bougeard (9 joint publications)
  • Eric Legius (8 joint publications)
  • D. Gareth Evans (8 joint publications)

Their work was primarily positioned at the intersection of genetic mechanisms and cancer biology, contributing to important guidelines for diagnosis and clinical practice related to cancer syndromes and rare diseases. This positioned them as a notable contributor to both fundamental and clinical genetic research within their institutional context at Grenoble Alpes University.

Best Publications

  • LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1.

    S. Hacein-Bey-Abina;C. Von Kalle;C. Von Kalle;M. Schmidt;M. P. McCormack

  • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

    Anne Rovelet-Lecrux;Didier Hannequin;Gregory Raux;Nathalie Le Meur

  • Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

    Valérie Bonadona;Bernard Bonaïti;Sylviane Olschwang;Sophie Grandjouan

  • Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability

    Bernhard Mlecnik;Bernhard Mlecnik;Bernhard Mlecnik;Gabriela Bindea;Gabriela Bindea;Gabriela Bindea;Helen K. Angell;Pauline Maby

  • Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

    Dominique Campion;Cécile Dumanchin;Didier Hannequin;Bruno Dubois

  • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

    Isabelle Janoueix-Lerosey;Delphine Lequin;Delphine Lequin;Laurence Brugières;Agnès Ribeiro

  • Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy.

    F Di Fiore;F Blanchard;F Charbonnier;F Le Pessot

  • Impact of Fc{gamma}RIIa-Fc{gamma}RIIIa polymorphisms and KRAS mutations on the clinical outcome of patients with metastatic colorectal cancer treated with cetuximab plus irinotecan.

    Frédéric Bibeau;Evelyne Lopez-Crapez;Frédéric Di Fiore;Simon Thezenas

  • A simple p53 functional assay for screening cell lines, blood, and tumors.

    J M Flaman;T Frebourg;V Moreau;F Charbonnier

  • Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

    Gaëlle Bougeard;Mariette Renaux-Petel;Jean-Michel Flaman;Camille Charbonnier

  • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

    Audrey Guilmatre;Christèle Dubourg;Anne-Laure Mosca;Solenn Legallic

  • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

  • P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

    A Chompret;L Brugières;M Ronsin;M Gardes

  • Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

    Christian P. Kratz;Maria Isabel Achatz;Laurence Brugieres;Thierry Frebourg

  • 2009 version of the Chompret criteria for Li Fraumeni syndrome.

    Julie Tinat;Gaelle Bougeard;Stéphanie Baert-Desurmont;Stéphanie Vasseur

  • BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

    E Domingo;P Laiho;M Ollikainen;M Pinto

  • Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant

    R. Sherrington;S. Froelich;S. Sorbi;D. Campion

  • Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

    Delphine Trochet;Franck Bourdeaut;Isabelle Janoueix-Lerosey;Anne Deville

  • Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

    Dominique Campion;Dominique Campion;Jean-Michel Flaman;Alexis Brice;Didier Hannequin

  • Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism

    Cécile Dumanchin;Agnès Camuzat;Dominique Campion;Patrice Verpillat

Frequent Co-Authors

Dominique Campion
Dominique Campion University of Rouen
Didier Hannequin
Didier Hannequin Grenoble Alpes University
Alexis Brice
Alexis Brice Institut du Cerveau
Mario Tosi
Mario Tosi University of Rouen
Laurence Brugières
Laurence Brugières Institut Gustave Roussy
Jean-François Deleuze
Jean-François Deleuze University of Paris-Saclay
Yves Agid
Yves Agid Institut du Cerveau
Claude Houdayer
Claude Houdayer Centre Hospitalier Universitaire de Rouen

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