Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC et al.
European Journal of Human Genetics : Ejhg, 2024
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J et al.
Genes, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K et al.
Genes, 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.
Vessoni AT et al.
Genetics and Molecular Biology, 2020
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N et al.
Journal of Medical Genetics, 2018
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
Slavin TP et al.
Familial Cancer, 2018
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
Batenburg NL et al.
The Embo Journal, 2015
Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage.
Cleaver JE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
p38 (MAPK) stress signalling in replicative senescence in fibroblasts from progeroid and genomic instability syndromes.
Tivey HS et al.
Biogerontology, 2013
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Bloch-Zupan A et al.
Orphanet Journal of Rare Diseases, 2013
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.
Andrade LN et al.
Human Molecular Genetics, 2012
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.
Newman JC et al.
Plos Genetics, 2008
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery DL et al.
American Journal of Human Genetics, 1998