Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
39717660 (PubMed )
Supplement: mmc4.xlsx › Raw_data
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
38040034 (PubMed )
Supplement: awad266_supplementary_data.pdf
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.
Wang H et al.
Cancer Medicine, 2022
35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf
A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.
Bui CB et al.
Human Genome Variation, 2020
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
Schäfer A et al.
Experimental Dermatology, 2013
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Falik-Zaccai TC et al.
Environmental and Molecular Mutagenesis, 2012
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