Associated Papers
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
36344503 (PubMed )
Supplement: 41467_2022_32908_MOESM1_ESM.pdf
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E et al.
Genetics and Molecular Biology, 2020
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
Imagawa E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
Wesolowska M et al.
Journal of Neuromuscular Diseases, 2015
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 2014
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A et al.
Journal of Neuromuscular Diseases, 2014
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