Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Liu MW et al.
Molecular Biology Reports, 2024
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
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Gauhar Z et al.
Cells, 2022
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
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
Zhang D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome.
Li Y et al.
Acta Dermato-venereologica, 2019
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