Associated Papers
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Fiorica PN et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Light and shade of multigene panel testing for hereditary cancer: Examples from the real world.
Innella G et al.
Tumori, 2024
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Three cases of colon cancer in four generations of the Saudi family, caused by endogamous germline mutations.
Alshaya DS et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Tavano F et al.
Molecular Medicine (cambridge, Mass.), 2023
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
Anaclerio F et al.
Frontiers in Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin A et al.
Biomed Research International, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.
Guarini A et al.
Haematologica, 2012
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Chessa L et al.
Annals of Human Genetics, 2009
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Magliozzi M et al.
Disease Markers, 2006
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N et al.
Human Molecular Genetics, 1999
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
Telatar M et al.
American Journal of Human Genetics, 1998
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
Telatar M et al.
American Journal of Human Genetics, 1996
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.
Özdemir Z et al.
Mutation Research, 0