M. Vallée

发表

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

William Wheeler, Paolo Vineis, Andres Metspalu, 2014, Nature Genetics.

Consistency of Mycobacterium tuberculosis Complex Spoligotyping between the Membrane-Based Method and In Silico Approach

G. Lina, E. Hodille, M. Vallée, 2022, Microbiology spectrum.

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

J. Hopper, E. John, M. Southey, 2016, PloS one.

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex‐UVs

F. Couch, S. Tavtigian, D. Goldgar, 2012, Human mutation.

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

D. Nix, A. Spurdle, S. Tavtigian, 2016, Human mutation.

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

J. Hopper, E. John, M. Southey, 2014, Breast Cancer Research.

Performances of targeted RNA-sequencing for the analysis of fusion transcripts, gene mutation and expression in haematological malignancies

G. Salles, S. Mareschal, S. Hayette, 2020, bioRxiv.

The 12 p 13 . 33 / RAD 52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract

Tanuja, W. Ahrens, S. Franceschi, 2015 .

Multigene testing of moderate-risk genes: be mindful of the missense

E. John, M. Southey, S. Tavtigian, 2016, Journal of Medical Genetics.

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan

S. Sangrajrang, V. Gaborieau, O. Sinilnikova, 2012, Clinical genetics.

Web table 2

Amanda B. Spurdle, Marcelo A. Carvalho, Fergus J. Couch, 2015 .

Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

K. Stefánsson, F. Clavel-Chapelon, E. Riboli, 2017, Nature Genetics.

Exploring the in situ evolution of nitrofurantoin resistance in clinically derived uropathogenic Escherichia coli isolates

Judith Hall, Aaron Tan, P. Aldridge, 2022, bioRxiv.

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Predrag Radivojac, Biao Li, Alun Thomas, 2013, Human mutation.

RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

J. Hopper, E. John, M. Southey, 2012, PloS one.

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

J. Hopper, E. John, M. Southey, 2011, Breast Cancer Research.

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Alun Thomas, Sue Healey, John L Hopper, 2009, American journal of human genetics.

A review of a multifactorial probability‐based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

Fergus J Couch, F. Couch, S. Tavtigian, 2012, Human mutation.

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Marta Santamariña Pena, F. Couch, A. Spurdle, 2015, Journal of Medical Genetics.

Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma

P. Brennan, D. Zaridze, A. Mukeria, 2016, Scientific Reports.

Modelling mutational landscapes of human cancers in vitro

X. Castells, J. Zavadil, M. Olivier, 2014, Scientific Reports.

A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

W. Ahrens, S. Franceschi, C. Healy, 2015, Journal of the National Cancer Institute.

Rare germline mutations in PALB2 and breast cancer risk: A population‐based study

C. Begg, W. Foulkes, S. Tavtigian, 2012, Human mutation.

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

F. Couch, S. Tavtigian, Xianshu Wang, 2012 .

The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract

W. Ahrens, S. Franceschi, C. Healy, 2015, PloS one.

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

P. Brennan, D. Bacq, A. Boland, 2021, Cancers.

Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies

G. Salles, S. Mareschal, S. Hayette, 2021, HemaSphere.

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues

J. Zavadil, M. Olivier, C. Pérez-Plasencia, 2015, PloS one.

Biology of Human Tumors Noninvasive Diagnosis of Actionable Mutations by Deep Sequencing of Circulating Free DNA in Lung Cancer from Never-Smokers : A Proof-of-Concept Study

N. Girard, T. Schuster, M. Olivier, 2014 .

Noninvasive Diagnosis of Actionable Mutations by Deep Sequencing of Circulating Free DNA in Lung Cancer from Never-Smokers: A Proof-of-Concept Study from BioCAST/IFCT-1002

N. Girard, T. Schuster, M. Olivier, 2014, Clinical Cancer Research.

Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

B. Nilsson, R. Klein, B. Pégourié, 2019, Leukemia.

Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses

V. Cottin, B. Verrier, J. Lamartine, 2021, Cells.

KRAS mutations in blood circulating cell-free DNA: a pancreatic cancer case-control

P. Brennan, E. Fabianova, V. Janout, 2016, Oncotarget.

Performance comparisons between clustering models for reconstructing NGS results from technical replicates

M. Vallée, C. Bardel, J. Iwaz, 2023, Frontiers in Genetics.

Needlestack: an ultra-sensitive variant caller for multi-sample next generation sequencing data

Paul Brennan, Elisabeth Brambilla, Matthieu Foll, 2019, bioRxiv.

Development, Evaluation, and Implementation of a House-Made Targeted Next-Generation Sequencing Spoligotyping in a French Laboratory

Y. Benito, G. Lina, E. Hodille, 2022, International journal of molecular sciences.

Rare Circulating Cells in Familial Waldenström Macroglobulinemia Displaying the MYD88 L265P Mutation Are Enriched by Epstein-Barr Virus Immortalization

J. Lachuer, G. Byrnes, C. Dumontet, 2015, PloS one.

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

E. John, M. Southey, S. Tavtigian, 2014, Breast Cancer Research.

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

P. Radivojac, S. Mooney, S. Sunyaev, 2013, Human mutation.