Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
2016 · The American Journal of Human Genetics · 116 citations
https://doi.org/10.1016/j.ajhg.2016.03.010
K
Kyle Thompson
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Kyle Thompson is an academic researcher from Wellcome Centre for Mitochondrial Research. The author has contributed to research in topics: Mitochondrial Function and Pathology & Metabolism and Genetic Disorders & RNA modifications and cancer. The author has an h-index of 23, co-authored 54 publications.
Papers by this author
worksBiallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
2017 · The American Journal of Human Genetics · 85 citations
https://doi.org/10.1016/j.ajhg.2017.08.015
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
2021 · The American Journal of Human Genetics · 54 citations
https://doi.org/10.1016/j.ajhg.2021.10.002
Expanding the clinical phenotype of IARS2-related mitochondrial disease
2018 · BMC Medical Genetics · 27 citations
https://doi.org/10.1186/s12881-018-0709-3
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
2017 · Neurogenetics · 18 citations
https://doi.org/10.1007/s10048-017-0526-4
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
2023 · European Journal of Human Genetics · 8 citations
https://doi.org/10.1038/s41431-023-01437-2
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