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List of works by Claude Houdayer

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Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes

scientific article published in January 2002
ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

scientific article published on 25 January 2019
Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

scientific article
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

scientific article published on 3 April 2018
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

scientific article published on 22 August 2012
Orofacial cleft defects: inference from nature and nurture

scientific article published on 01 January 1998
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

scientific article published on 11 February 2020
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

scientific article published on 18 July 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020
Mutiple DICER1-related lesions associated with a germline deep intronic mutation

scientific article published on 22 February 2018
Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

scientific article published on 08 September 2011
Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography

scientific article published on January 1, 2011
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

scientific article published on 22 September 2021
Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

scientific article published on 08 July 2020
Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit

scientific article published on June 1, 1998
Implications of genetic risk factors in breast cancer: culprit genes and associated malignancies

scientific article published on 01 December 2009
Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

scientific article published on 18 June 2020
Lack of evidence for CDK12 as an ovarian cancer predisposing gene

scientific article published on 14 March 2020
Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

scientific article published on 17 August 2017

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