Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
41727503 (PubMed )
Supplement: Table1.xlsx › Table_S4
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
Computational Analysis of Non-synonymous SNPs in ATM Kinase: Structural Insights, Functional Implications, and Inhibitor Discovery.
Panchal NK et al.
Molecular Biotechnology, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 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
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_
Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.
Wei Y et al.
Molecular Oncology, 2023
37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S3
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.
Liu Y et al.
Frontiers in Genetics, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Jürgens H et al.
Frontiers in Genetics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
28652578 (PubMed )
Supplement: NIHMS881987-supplement-1.docx
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
Huang DS et al.
Oncotarget, 2015
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV et al.
American Journal of Human Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.
Chun HH et al.
International Journal of Cancer, 2002
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