Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
40400026 (PubMed )
Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › VC_validation_cohort
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
Kumar R et al.
Npj Genomic Medicine, 2022
Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.
Naber M et al.
European Journal of Medical Genetics, 2021
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Lake NJ et al.
Human Mutation, 2019
Select a paper to view details