Associated Papers
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
39317201 (PubMed )
Supplement: mmc4.xlsx › Table_S4
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST7-ATM
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.
Ganguly J et al.
Movement Disorders Clinical Practice, 2022
Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Hayashi H et al.
Cancer Science, 2020
32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S10
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_5
Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.
Zhang L et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
Kaneyasu T et al.
Npj Breast Cancer, 2020
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018
28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7
Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.
Nakayama T et al.
Brain & Development, 2015
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