Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
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: Table6.XLSX › Sheet1
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS et al.
Cancer Medicine, 2023
35861108 (PubMed )
Supplement: CAM4-12-1972-s008.xlsx › Table_S5
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
XPG: a multitasking genome caretaker.
Muniesa-Vargas A et al.
Cellular and Molecular Life Sciences : Cmls, 2022
35230528 (PubMed )
Supplement: 18_2022_4194_MOESM1_ESM.xlsx › Sheet1
COFS type 3 in an Indian family with antenatally detected arthrogryposis.
Panigrahi I et al.
American Journal of Medical Genetics. Part A, 2021
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM3_ESM.xlsx › Supp_Table_2
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
Chikhaoui A et al.
Frontiers in Genetics, 2019
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.
Ricotti R et al.
Clinical Genetics, 2018
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Drury S et al.
American Journal of Medical Genetics. Part A, 2014
Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
Schäfer A et al.
The Journal of Investigative Dermatology, 2013
Xeroderma pigmentosum group G with pellagroid rash: A rare presentation.
Garg S et al.
Pediatric Dermatology, 0
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