List of works - Claude Houdayer

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

scientific article

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

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

scientific article

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

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)

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

scientific article

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

scientific article published on 13 March 2013

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

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

scientific article published in July 2008

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

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

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

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

scientific article

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

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

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

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

scientific article published on 14 February 2007

Germline mutation in the RAD51B gene confers predisposition to breast cancer

scientific article

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

scientific article published on 8 April 2016

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

MDM2 as a modifier gene in retinoblastoma

scientific article published on 4 November 2010

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

scientific article

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

scientific article published on September 7, 2012

BRCA Share: A Collection of Clinical BRCA Gene Variants

scientific article

Genotype-phenotype correlations in hereditary familial retinoblastoma

scientific article published on 01 March 2007

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

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

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

In Silico Prediction of Splice-Affecting Nucleotide Variants

scientific article published on January 1, 2011

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

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

scientific article

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

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

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

scientific article published on 01 December 2007

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas

scientific article

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

scientific article

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

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

scientific article published on 30 October 2017

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

scientific article published on 16 December 2019

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

scientific article published on 15 February 2018

A missense variant within BRCA1 exon 23 causing exon skipping

scientific article published on 01 October 2010

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

scientific article published in February 2018

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

scientific article

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

scientific article

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

scientific article published on 9 February 2016

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

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

scientific article

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

List of works by Claude Houdayer

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Germline mutation in the RAD51B gene confers predisposition to breast cancer

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

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

MDM2 as a modifier gene in retinoblastoma

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

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

BRCA Share: A Collection of Clinical BRCA Gene Variants

Genotype-phenotype correlations in hereditary familial retinoblastoma

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

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

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

In Silico Prediction of Splice-Affecting Nucleotide Variants

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

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

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

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

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

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas

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

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

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

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

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

A missense variant within BRCA1 exon 23 causing exon skipping

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

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

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

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

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

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

Mosaicism and prenatal diagnosis options: insights from retinoblastoma