Associated Papers
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.
Putti S et al.
Cancers, 2021
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Wappenschmidt B et al.
Geburtshilfe Und Frauenheilkunde, 2020
Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.
Yates LA et al.
Structure (london, England : 1993), 2020
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.
Keimling M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Detection of ATM gene mutations in young lung cancer patients: a population-based control study.
Schneider J et al.
Archives of Medical Research, 2008
A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.
Howe JR et al.
Cancer Genetics and Cytogenetics, 2008
ATM gene mutations in former uranium miners of SDAG Wismut: a pilot study.
Schneider J et al.
Oncology Reports, 2007
Molecular pathology of ataxia telangiectasia.
Taylor AM et al.
Journal of Clinical Pathology, 2005
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
Bionda C et al.
Human Genetics, 2004
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.
Dörk T et al.
American Journal of Medical Genetics. Part A, 2004
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.
Angèle S et al.
Human Mutation, 2003
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
van Belzen MJ et al.
Human Genetics, 1998