Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
Sidenna M et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
Zhang D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
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
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP et al.
Pediatric Neurology, 2015
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
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: the expanding clinical and mutational spectrum.
Laugel V
Mechanisms of Ageing and Development, 0
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