C. Dehainault

发表

RB1 and TP53 pathways in radiation-induced sarcomas

C. Houdayer, S. Chevillard, X. Sastre-Garau, 2007, Oncogene.

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

M. Sefta, F. Radvanyi, D. Stoppa-Lyonnet, 2016, PLoS genetics.

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

O. Delattre, M. Stern, P. Hupé, 2019, European Journal of Human Genetics.

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

D. Stoppa-Lyonnet, C. Houdayer, J. Tarabeux, 2016, European Journal of Human Genetics.

Combination of Carboplatin and Bevacizumab Is an Efficient Therapeutic Approach in Retinoblastoma Patient-Derived Xenografts.

S. Vacher, A. Nicolas, I. Bièche, 2016, Investigative ophthalmology & visual science.

Highly sensitive detection method of retinoblastoma genetic predisposition and biomarkers.

F. Radvanyi, D. Stoppa-Lyonnet, C. Houdayer, 2021, The Journal of molecular diagnostics : JMD.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

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

A. Eyre-Walker, C. Houdayer, J. Christodoulou, 2016, Human mutation.

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

Dominique Stoppa-Lyonnet, Laurent Castera, D. Stoppa-Lyonnet, 2008, Human mutation.

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

M. Sefta, E. Barillot, O. Mariani, 2021, Nature Communications.

Genotype–phenotype correlations in hereditary familial retinoblastoma

L. Desjardins, X. Sastre, D. Stoppa-Lyonnet, 2007, Human mutation.

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.

D. Stoppa-Lyonnet, C. Houdayer, M. Carton, 2020, JAMA ophthalmology.

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2004, Human mutation.

Pros and cons of HaloPlex enrichment in cancer predisposition genetic diagnosis

N. Servant, D. Stoppa-Lyonnet, C. Houdayer, 2015, AIMS Genetics.

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

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2007, European Journal of Human Genetics.

MDM2 as a modifier gene in retinoblastoma.

A. Sabbagh, D. Stoppa-Lyonnet, C. Houdayer, 2010, Journal of the National Cancer Institute.

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.

L. Desjardins, D. Stoppa-Lyonnet, C. Houdayer, 2004, Nucleic acids research.

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

L. Desjardins, D. Stoppa-Lyonnet, G. Almouzni, 2014, Human molecular genetics.

The survival gene MED 4 explains low penetrance retinoblastoma in patients with large RB 1 deletion

L. Desjardins, D. Stoppa-Lyonnet, G. Almouzni, 2014 .

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast‐ovarian cancer family

I. Bièche, A. Aurias, R. Lidereau, 2003, Human mutation.

Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.

O. Delattre, F. Radvanyi, H. Brisse, 2021, European journal of cancer.

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

D. Stoppa-Lyonnet, C. Houdayer, J. Couturier, 2012, European Journal of Human Genetics.

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

A. Benachi, D. Stoppa-Lyonnet, C. Houdayer, 2011, Prenatal diagnosis.

Screening for genomic rearrangements by multiplex PCR/liquid chromatography.

D. Stoppa-Lyonnet, C. Houdayer, M. Gauthier‐Villars, 2011, Methods in molecular biology.

APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?

A. Vincent-Salomon, I. Bièche, V. Bécette, 2022, Journal of Medical Genetics.

Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition

F. Lallemand, F. Radvanyi, S. Vacher, 2023, Journal of medical genetics.