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
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Alston CL et al.
The Journal of Pathology, 2021
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Helman G et al.
Human Mutation, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
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