V. Bourdon

发表

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

Jean-Philippe Vert, Etienne Rouleau, Sophie Krieger, 2012, Human mutation.

Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases

H. Sobol, V. Bourdon, W. Hamadou, 2016, Familial Cancer.

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies

A. Fabre, L. Faivre, H. Sobol, 2016, Annals of Hematology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

P. Chappuis, R. Lidereau, D. Stoppa-Lyonnet, 2006, Journal of Medical Genetics.

Evidence of somatic mosaicism for aMECP2 mutation in females with Rett syndrome: diagnostic implications

C. Philippe, P. Jonveaux, J. Chelly, 2001, Journal of medical genetics.

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

I. Bièche, M. Stern, R. Lidereau, 2021, Cancers.

Front & Back Matter

D. Weisenburger, H. Watari, N. Sakuragi, 2013, Pathobiology.

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

S. Olschwang, H. Sobol, G. Rousseau, 2011, BMC neurology.

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

F. Révillion, Chloé-Agathe Azencott, N. Sevenet, 2020, BMC Medical Research Methodology.

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

A. Baruchel, C. Preudhomme, H. Sobol, 2009, Blood.

Molecular study of CEPBA in familial hematological malignancies

L. Huiart, L. Demange, L. Faivre, 2009, Familial Cancer.

First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome

R. Lidereau, S. Olschwang, B. Buecher, 2011, Clinical genetics.

Spectrum of MECP2 mutations in Rett syndrome.

P. Jonveaux, J. Chelly, L. Villard, 2002, Genetic testing.

T‐cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome

P. Feugier, P. Jonveaux, J. Eliaou, 2002, British journal of haematology.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

F. Révillion, D. Stoppa-Lyonnet, C. Houdayer, 2020, Cancer Research.

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.

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

F. Révillion, D. Stoppa-Lyonnet, C. Houdayer, 2020, Cancer Research.

Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer

G. Cancel-Tassin, O. Cussenot, D. Stoppa-Lyonnet, 2021, The Prostate.

Familial hematological malignancies: ASXL1 gene investigation

L. Faivre, H. Sobol, C. Dugast, 2016, Clinical and Translational Oncology.

Molecular study of the perforin gene in familial hematological malignancies

L. Huiart, L. Demange, L. Faivre, 2011, Hereditary cancer in clinical practice.

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

Dieter Niederacher, Ute Hamann, Alfons Meindl, 2008, American journal of human genetics.

Arabidopsis Mutants Impaired in Cosuppression

P. Mourrain, H. Vaucheret, S. Balzergue, 1998, Plant Cell.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

P. Hutter, G. Thomas, Kai Yu, 2009, Journal of cancer epidemiology.

Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families

P. Chappuis, R. Lidereau, D. Stoppa-Lyonnet, 2004, Cancer Research.

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

R. Berger, C. Philippe, P. Jonveaux, 1999, Human molecular genetics.

Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.

L. Faivre, H. Sobol, C. Dugast, 2021, Bulletin du cancer.

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

A. Verloes, C. Philippe, P. Jonveaux, 2003 .

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

C. Philippe, P. Jonveaux, V. Bourdon, 2000, Human Genetics.

Quantitative PCR high‐resolution melting (qPCR‐HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome

I. Bièche, R. Lidereau, S. Olschwang, 2009, Human mutation.

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients.

K. Reichwald, C. Philippe, P. Jonveaux, 2001, Annales de genetique.

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

F. Chapon, P. Jonveaux, J. Derlon, 2004, Annales de genetique.

GATA2 gene analysis in several forms of hematological malignancies including familial aggregations

L. Faivre, H. Sobol, C. Dugast, 2017, Annals of Hematology.

MECP2 Mutations or Polymorphisms in Mentally Retarded Boys

A. Verloes, C. Philippe, P. Jonveaux, 2012, Molecular Diagnosis.

I. Bièche, R. Lidereau, S. Olschwang, 2009, Human mutation.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

I. Bièche, V. Chabaud, J. Peyrat, 2012, Breast Cancer Research and Treatment.

Prediction of BRCA1 Germ-Line Mutation Status in Patients with Breast Cancer Using Histoprognosis Grade, MS110, Lys27H3, Vimentin, and KI67

J. Peyrat, R. Lidereau, L. Huiart, 2013, Pathobiology.

Prediction of BRCA 1 GermLine Mutation Status in Patients with Breast Cancer Using Histoprognosis Grade , MS 110 , Lys 27 H 3 , Vimentin , and KI 67

J. Peyrat, R. Lidereau, L. Huiart, 2013 .

Familial hematological malignancies: new IDH2 mutation

A. Paci, V. Penard-Lacronique, L. Faivre, 2016, Annals of Hematology.

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

D. Birnbaum, R. Lidereau, S. Olschwang, 2010, Journal of Medical Genetics.

ARLTS1, potential candidate gene in familial aggregation of hematological malignancies.

L. Faivre, H. Sobol, C. Dugast, 2017, Bulletin du cancer.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic Acids Research.