M. Lebrun

发表

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer

A. Calender, M. Léoné, V. Bonadona, 2021, Genes.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

P. Laurent-Puig, J. Duffour, J. Saurin, 2015, European Journal of Human Genetics.

Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall

L. Mazzola, P. Convers, D. Ville, 2011, Epileptic disorders : international epilepsy journal with videotape.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

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.

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

R. Schiappa, C. Lepage, L. Faivre, 2017, Hereditary Cancer in Clinical Practice.

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

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

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

G. Pinto, D. Lacombe, J. Salles, 2010, The Journal of clinical endocrinology and metabolism.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

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.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, Journal of Medical Genetics.

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

F. Escande, P. Guerreschi, F. Petit, 2017, Genetics in Medicine.

A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking lynch syndrome.

F. Prieur, N. Hamzaoui, F. Desseigne, 2021, European journal of medical genetics.

Supernumerary marker chromosomes management in prenatal diagnosis

N. Gruchy, M. Kottler, M. Lebrun, 2008, American journal of medical genetics. Part A.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

J. Saurin, J. Limacher, V. Boige, 2022, Digestive Diseases and Sciences.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

R. Schiappa, C. Lepage, L. Faivre, 2017, Hereditary cancer in clinical practice.

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort

C. Lasset, A. Calender, M. Léoné, 2023, Cancers.

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.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Peer Reviewed Title

B. Bonanni, O. Olopade, B. Karlan, 2012 .

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

S. Julia, A. Afenjar, F. Lecoquierre, 2024, Journal of medical genetics.