Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
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: Table2.XLSX › Sheet1
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
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
Zádori D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
31478152 (PubMed )
Supplement: 10072_2019_4044_MOESM1_ESM.pdf
Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.
Ow SGW et al.
Clinical Colorectal Cancer, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
Zhou EY et al.
The Journal of Dermatology, 2017
XPA: A key scaffold for human nucleotide excision repair.
Sugitani N et al.
Dna Repair, 2016
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O et al.
Archives of Dermatological Research, 2012
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A.
Yang Y et al.
The British Journal of Dermatology, 2004
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