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
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
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
Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors.
Corradi C et al.
Carcinogenesis, 2023
An unusual ectopic thymoma clonal evolution analysis: A case report.
Zhang S et al.
Open Life Sciences, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
Soares IFZ et al.
Molecular Genetics & Genomic Medicine, 2020
The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
Castro LP et al.
Mutation Research. Genetic Toxicology and Environmental Mutagenesis, 2020
Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.
Lerner LK et al.
Scientific Reports, 2020
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
Nishigori C et al.
Photochemistry and Photobiology, 2019
Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type.
Hong WJ et al.
Photodermatology, Photoimmunology & Photomedicine, 2018
A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.
Munford V et al.
The British Journal of Dermatology, 2017
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
Sun Z et al.
The British Journal of Dermatology, 2015
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Opletalova K et al.
Human Mutation, 2014