Claude Houdayer
Publications by Year
Research Areas
BRCA gene mutations in cancer, RNA Research and Splicing, RNA modifications and cancer, Nutrition, Genetics, and Disease, Genomics and Rare Diseases
Most-Cited Works
- → 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(2010)341 cited
- → Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers(2008)284 cited
- → Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants(2012)239 cited
- → Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification(2019)150 cited
- → Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome(2020)128 cited
- → Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort(2018)109 cited
- → Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers(2012)96 cited
- → SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing(2022)91 cited
- → 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(2016)90 cited
- → Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium(2014)87 cited