World's Best Scientists 2026 revealed!

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Genetics

D-Index
49
Citations
10336
World Ranking
3993
National Ranking
207

Overview

Claude Houdayer is affiliated with the Centre Hospitalier Universitaire de Rouen in France. Their research activity spans several intersecting areas of biochemistry, genetics, molecular biology, and medicine, with a focus on oncology, pathology, and forensic medicine.

The scientist's work centers on key topics including:

  • BRCA gene mutations in cancer
  • Genetic factors in colorectal cancer
  • Cancer-related molecular pathways
  • Genomic variations and chromosomal abnormalities
  • Genomics and rare diseases
  • RNA modifications and cancer
  • Ocular oncology and treatments

Claude Houdayer has contributed to a variety of recent publications that reflect these interests. Notable papers include:

  • "A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression," 2021, published in Nature Communications
  • "Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome," 2022, JNCI Journal of the National Cancer Institute
  • "Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples," 2020, Clinical Chemistry
  • "MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects," 2021, Human Genetics
  • "Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12," 2020, Cancer Research

The scientist frequently collaborates with several researchers, including:

  • Dominique Stoppa-Lyonnet
  • Lisa Golmard
  • Sandrine M. Caputo
  • Thierry Frébourg
  • Stéphanie Baert-Desurmont

Claude Houdayer's research is often published in venues that focus on cancer biology and genetics. The most frequent publication outlets include:

  • Cancers
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cancer Research
  • Familial Cancer
  • Nature Communications

Their scholarly output brings together an interdisciplinary approach, combining molecular biology and genetics to advance understanding in cancer research and related medical fields. This profile reflects an extensive body of work contributing to ongoing developments in genetic determinants of cancer and molecular diagnostics.

Best Publications

  • Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

    Shinji Kondo;Brian C. Schutte;Rebecca J. Richardson;Bryan C. Bjork

  • Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation

    Tatiana Popova;Elodie Manié;Guillaume Rieunier;Virginie Caux-Moncoutier

  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

  • A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

    Antonis C. Antoniou;Xianshu Wang;Zachary S. Fredericksen;Lesley McGuffog

  • Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.

    Diane E Rushlow;Berber M Mol;Jennifer Y Kennett;Stephanie Yee;Stephanie Yee

  • Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

    Antonis C. Antoniou;Antonis C. Antoniou;Amanda B. Spurdle;Amanda B. Spurdle;Olga M. Sinilnikova;Olga M. Sinilnikova;Sue Healey;Sue Healey

  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    Fergus J. Couch;Xianshu Wang;Lesley McGuffog;Andrew Lee

  • Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

    Xin Yang;Goska Leslie;Alicja Doroszuk;Sandra Schneider

  • Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

    Claude Houdayer;Virginie Caux-Moncoutier;Sophie Krieger;Michel Barrois

  • Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

    Thierry Frebourg;Svetlana Bajalica Lagercrantz;Carla Oliveira;Rita Magenheim

  • Evaluation of in silico splice tools for decision‐making in molecular diagnosis

    Claude Houdayer;Catherine Dehainault;Christophe Mattler;Dorothée Michaux

  • Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

    C. Houdayer;M. Gauthier-Villars;A. Laugé;S. Pagès-Berhouet

  • Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease

    Mohammed Tredano;Matthias Griese;Frank Brasch;Silja Schumacher

  • Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

    Capucine Delnatte;Damien Sanlaville;Jean François Mougenot;Joris Robert Vermeesch

  • Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

    Véronique Gelsi-Boyer;Virginie Trouplin;José Adélaïde;Nicola Aceto

  • Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification

    Michael T. Parsons;Emma Tudini;Hongyan Li;Eric Hahnen

  • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

    Antonis C Antoniou;Karoline B Kuchenbaecker;Penny Soucy;Jonathan Beesley

  • Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

    Mara Colombo;Marinus J. Blok;Phillip Whiley;Phillip Whiley;Marta Santamarina

  • Genotype-phenotype correlations in hereditary familial retinoblastoma.

    Melissa Taylor;Catherine Dehainault;Laurence Desjardins;François Doz

  • Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

    Miguel De La Hoya;Omar Soukarieh;Irene López-Perolio;Ana Vega

Frequent Co-Authors

Amanda B. Spurdle
Amanda B. Spurdle QIMR Berghofer Medical Research Institute
François Doz
François Doz Université Paris Cité
Fergus J. Couch
Fergus J. Couch Mayo Clinic
Paolo Radice
Paolo Radice Fondazione IRCCS Istituto Nazionale dei Tumori
Barbara Wappenschmidt
Barbara Wappenschmidt University of Cologne
Thierry Frebourg
Thierry Frebourg Grenoble Alpes University
Irene L. Andrulis
Irene L. Andrulis University of Toronto
Melissa C. Southey
Melissa C. Southey Monash University

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