Associated Papers
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Yau WY et al.
Brain Communications, 2025
40488180 (PubMed )
Supplement: fcaf188_supplementary_data.pdf
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
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
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
Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Thorbinson C et al.
Clinical Genetics, 2022
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.
Kou Y et al.
Medicine, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N et al.
Journal of Medical Genetics, 2018
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
Dobbins SE et al.
Familial Cancer, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 2016
27004399 (PubMed )
Supplement: 13023_2016_408_MOESM1_ESM.xlsx › Feuil1
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Bloch-Zupan A et al.
Orphanet Journal of Rare Diseases, 2013
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
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