Associated Papers
Genotype-Phenotype Associations in a Robust Cohort of 69 Xeroderma Pigmentosum Patients across Türkiye: A Multicenter Study.
Baskurt D et al.
The British Journal of Dermatology, 2026
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
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_MOESM3_ESM.xlsx › Sheet1
The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.
Sarasin A
Cancers, 2023
37345043 (PubMed )
Supplement: cancers-15-02706-s001.zip › cancers-2362746-supplementary.pdf
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
36773602 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
Nikolaev S et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
Rabie E et al.
Genes, 2021
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
Hadj-Rabia S et al.
The British Journal of Dermatology, 2013
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
Rivera-Begeman A et al.
Dna Repair, 2007
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