Associated Papers
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
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke.
Stowe RC et al.
Pediatric Neurology, 2018
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.
Kou Y et al.
Medicine, 2018
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
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ et al.
Science Translational Medicine, 2011
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
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