Associated Papers
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Generation and characterization of CRISPR-Cas9-mediated XPC gene knockout in human skin cells.
Nasrallah A et al.
Scientific Reports, 2024
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series.
Yurchenko AA et al.
Communications Medicine, 2023
Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.
Riechelmann RP et al.
Endocrine-related Cancer, 2023
The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.
Sarasin A
Cancers, 2023
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA et al.
Nature Communications, 2023
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients.
Kobayashi H et al.
The Journal of Dermatology, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells.
Quintero-Ruiz N et al.
Photochemistry and Photobiology, 2022
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
Xeroderma Pigmentosum Complementation Group C (XPC): Emerging Roles in Non-Dermatologic Malignancies.
Nasrallah NA et al.
Frontiers in Oncology, 2022
Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.
Taieb A et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.
Yuniati R et al.
Intractable & Rare Diseases Research, 2021
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
XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.
Yurchenko AA et al.
Nature Communications, 2020
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
PPRC1, but not PGC-1α, levels directly correlate with expression of mitochondrial proteins in human dermal fibroblasts.
Mori MP et al.
Genetics and Molecular Biology, 2020
Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.
March OP et al.
Cells, 2020
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
Zádori D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E et al.
The British Journal of Dermatology, 2019
Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.
Sarasin A et al.
Blood, 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
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers.
Elliott K et al.
Plos Genetics, 2018
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 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
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia.
Jerbi M et al.
The British Journal of Dermatology, 2016
Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
Bensenouci S et al.
Biomed Research International, 2016
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.
Sheth J et al.
International Journal of Dermatology, 2015
The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.
Charoute H et al.
European Journal of Human Genetics : Ejhg, 2014
DNA repair diseases: What do they tell us about cancer and aging?
Menck CF et al.
Genetics and Molecular Biology, 2014