List of works - Claude Houdayer

A "dry and wet hybrid" lithography technique for multilevel replication templates: Applications to microfluidic neuron culture and two-phase global mixing

scientific article published on 14 April 2011

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

scientific article

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

scientific article published on 14 February 2007

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

scientific article published on 22 September 2021

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

scientific article

A missense variant within BRCA1 exon 23 causing exon skipping

scientific article published on 01 October 2010

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

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

scientific article published on 18 June 2020

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

scientific article

BRCA Share: A Collection of Clinical BRCA Gene Variants

scientific article

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

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

scientific article published on 16 December 2019

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 13 March 2013

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit ⬇️

scientific article published on June 1, 1998

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

scientific article published on 15 February 2018

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

scientific article published on 23 March 2016

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

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

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

scientific article published on 25 February 2014

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

scientific article

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

scientific article

Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

scientific article published on 18 July 2018

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

scientific article

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2.

scientific article published on January 2010

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

scientific article

Evaluation of in silico splice tools for decision-making in molecular diagnosis

scientific article published in July 2008

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

scientific article published on 9 February 2016

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

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

scientific article

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

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

scientific article

Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma

scientific article

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

scientific article (publication date: 2013)

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

scientific article

Genotype-phenotype correlations in hereditary familial retinoblastoma

scientific article published on 01 March 2007

Germline mutation in the RAD51B gene confers predisposition to breast cancer

scientific article

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

scientific article

High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE

scientific article published on 01 December 2007

Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non-BRCAness high grade ovarian carcinoma

scientific article published on 29 April 2015

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

scientific article

Implications of genetic risk factors in breast cancer: culprit genes and associated malignancies ⬇️

scientific article published on 01 December 2009

Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

scientific article

In Silico Prediction of Splice-Affecting Nucleotide Variants ⬇️

scientific article published on January 1, 2011

In vivo efficacy of photodynamic therapy in three new xenograft models of human retinoblastoma

scientific article

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

scientific article published on 14 March 2020

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

scientific article published on 01 September 2019

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

scientific article published on 30 October 2017

MDM2 as a modifier gene in retinoblastoma

scientific article published on 4 November 2010

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

scientific article published on 08 September 2011

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation ⬇️

scientific article published on September 7, 2012

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

scientific article

Mutiple DICER1-related lesions associated with a germline deep intronic mutation

scientific article published on 22 February 2018

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

scientific article published on 8 April 2016

Orofacial cleft defects: inference from nature and nurture

scientific article published on 01 January 1998

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

scientific article

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P) ⬇️

scientific article published on November 15, 2001

Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy

scientific article published in February 2018

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

scientific article published on January 1, 2011

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

scientific article published in January 2002

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

scientific article published on 11 February 2020

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

scientific article published on 17 August 2017

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

scientific article

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

scientific article published on 26 January 2020

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion

scientific article

List of works by Claude Houdayer

A "dry and wet hybrid" lithography technique for multilevel replication templates: Applications to microfluidic neuron culture and two-phase global mixing

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

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

A missense variant within BRCA1 exon 23 causing exon skipping

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

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

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

BRCA Share: A Collection of Clinical BRCA Gene Variants

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

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

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit ⬇️

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

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

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

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

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

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

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

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

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2.

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

Evaluation of in silico splice tools for decision-making in molecular diagnosis

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers

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

Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma

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

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

Genotype-phenotype correlations in hereditary familial retinoblastoma

Germline mutation in the RAD51B gene confers predisposition to breast cancer

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

High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE

Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non-BRCAness high grade ovarian carcinoma

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Implications of genetic risk factors in breast cancer: culprit genes and associated malignancies ⬇️

Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

In Silico Prediction of Splice-Affecting Nucleotide Variants ⬇️

In vivo efficacy of photodynamic therapy in three new xenograft models of human retinoblastoma

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

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

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

MDM2 as a modifier gene in retinoblastoma

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation ⬇️

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Mutiple DICER1-related lesions associated with a germline deep intronic mutation

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Orofacial cleft defects: inference from nature and nurture

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P) ⬇️

Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

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

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

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

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

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion