Associated Papers
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.
Le J et al.
Journal of Biomolecular Structure & Dynamics, 2023
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
Nassar AH et al.
British Journal of Cancer, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage.
Fayyad N et al.
Frontiers in Genetics, 2020
DNA Oxidation and Excision Repair Pathways.
Lee TH et al.
International Journal of Molecular Sciences, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Leong TL et al.
Oncogene, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
Ramírez-Calvo M et al.
Hereditary Cancer in Clinical Practice, 2019
Personalized Treatment of H3K27M-Mutant Pediatric Diffuse Gliomas Provides Improved Therapeutic Opportunities.
Gojo J et al.
Frontiers in Oncology, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1.
Bidon B et al.
Nature Communications, 2018
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Martin-Morales L et al.
Plos One, 2018
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
Doubaj Y et al.
Journal of Medical Case Reports, 2017
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Oxidative DNA damage and nucleotide excision repair.
Melis JP et al.
Antioxidants & Redox Signaling, 2013
Role of nucleotide excision repair proteins in oxidative DNA damage repair: an updating.
Pascucci B et al.
Biochemistry. Biokhimiia, 2011
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
Khan SG et al.
Dna Repair, 2009
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Bernardes de Jesus BM et al.
Molecular and Cellular Biology, 2008
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
Validation of XP-C pathogenic variations in archival material from a live XP patient.
McDaniel LD et al.
Dna Repair, 2007
XPC beyond nucleotide excision repair and skin cancers.
Zebian A et al.
Mutation Research. Reviews in Mutation Research, 0