Associated Papers
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_TableS3.xlsx › S3B
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.
Walker EJ et al.
Familial Cancer, 2019
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.
Marín M et al.
Genes, 2019
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T et al.
Human Mutation, 2018
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K et al.
American Journal of Human Genetics, 2013
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