List of works - Anthony Laugé

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy

scientific article

Ataxia-telangiectasia genes and breast cancer risk in a French family study.

scientific article published in January 2005

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

scientific article

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

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

scientific article published in July 2008

Fertility defects revealing germline biallelic nonsense NBN mutations

scientific article

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

scientific article published on 2 May 2013

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype ⬇️

scientific article published on June 12, 2011

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

scientific article

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation

scientific article published on February 2003

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

scientific article published on 21 July 2017

Three new BLM gene mutations associated with Bloom syndrome

scientific article

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

scientific article published on 9 November 2011

Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors

scientific article published on 01 June 2002

List of works by Anthony Laugé

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy

Ataxia-telangiectasia genes and breast cancer risk in a French family study.

Cancer Risks Associated With and Pathogenic Variants

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

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

Fertility defects revealing germline biallelic nonsense NBN mutations

Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype ⬇️

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

Three new BLM gene mutations associated with Bloom syndrome

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors