Associated Papers
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
34946871 (PubMed )
Supplement: genes-12-01922-s001.zip › Supplementary_Table_S1_Zayoud_K.pdf
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Wang X et al.
Scientific Reports, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.
Frosina G
Free Radical Biology & Medicine, 2007
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
Kleppa L et al.
Neuroscience, 2007
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR et al.
Journal of Human Genetics, 2006
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
Ridley AJ et al.
Journal of Human Genetics, 2005
From laboratory tests to functional characterisation of Cockayne syndrome.
Lanzafame M et al.
Mechanisms of Ageing and Development, 0
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M
Mechanisms of Ageing and Development, 0
Select a paper to view details