| PrimPol, an archaic primase/polymerase operating in human cells S García-Gómez, A Reyes, MI Martínez-Jiménez, ES Chocrón, S Mourón, ... Molecular cell 52 (4), 541-553, 2013 | 422 | 2013 |
| Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo PA Gammage, C Viscomi, ML Simard, ASH Costa, E Gaude, CA Powell, ... Nature medicine 24 (11), 1691-1695, 2018 | 265 | 2018 |
| Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 L Van Haute, S Dietmann, L Kremer, S Hussain, SF Pearce, CA Powell, ... Nature communications 7 (1), 12039, 2016 | 201 | 2016 |
| Regulation of mammalian mitochondrial gene expression: recent advances SF Pearce, P Rebelo-Guiomar, AR D’Souza, CA Powell, L Van Haute, ... Trends in biochemical sciences 42 (8), 625-639, 2017 | 178 | 2017 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 137 | 2014 |
| VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies D Diodato, L Melchionda, TB Haack, C Dallabona, E Baruffini, C Donnini, ... Human mutation 35 (8), 983-989, 2014 | 120 | 2014 |
| NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs L Van Haute, SY Lee, BJ McCann, CA Powell, D Bansal, L Vasiliauskaitė, ... Nucleic acids research 47 (16), 8720-8733, 2019 | 98 | 2019 |
| Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior APM De Brouwer, R Abou Jamra, N Körtel, C Soyris, DL Polla, M Safra, ... The American Journal of Human Genetics 103 (6), 1045-1052, 2018 | 96 | 2018 |
| TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies CA Powell, R Kopajtich, AR D’Souza, J Rorbach, LS Kremer, RA Husain, ... The American Journal of Human Genetics 97 (2), 319-328, 2015 | 96 | 2015 |
| Mitochondrial transcript maturation and its disorders L Van Haute, SF Pearce, CA Powell, AR D’Souza, TJ Nicholls, M Minczuk Journal of inherited metabolic disease 38, 655-680, 2015 | 95 | 2015 |
| The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules S Zaganelli, P Rebelo-Guiomar, K Maundrell, A Rozanska, S Pierredon, ... Journal of Biological Chemistry 292 (11), 4519-4532, 2017 | 80 | 2017 |
| METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis LV Haute, AG Hendrick, AR D’Souza, CA Powell, P Rebelo-Guiomar, ... Nucleic acids research 47 (19), 10267-10281, 2019 | 79 | 2019 |
| Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder CR Coughlin, GH Scharer, MW Friederich, HC Yu, EA Geiger, ... Journal of medical genetics 52 (8), 532-540, 2015 | 79 | 2015 |
| TRNT1 deficiency: clinical, biochemical and molecular genetic features Y Wedatilake, R Niazi, E Fassone, CA Powell, S Pearce, V Plagnol, ... Orphanet journal of rare diseases 11, 1-14, 2016 | 76 | 2016 |
| Human mitochondrial ribosomes can switch their structural RNA composition J Rorbach, F Gao, CA Powell, A D’Souza, RN Lightowlers, M Minczuk, ... Proceedings of the National Academy of Sciences 113 (43), 12198-12201, 2016 | 76 | 2016 |
| Maturation of selected human mitochondrial tRNAs requires deadenylation SF Pearce, J Rorbach, LV Haute, AR D’Souza, P Rebelo-Guiomar, ... Elife 6, e27596, 2017 | 74 | 2017 |
| Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease CA Powell, TJ Nicholls, M Minczuk Frontiers in Genetics 6, 129764, 2015 | 74 | 2015 |
| Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2) AV Vanlander, B Menten, J Smet, L De Meirleir, T Sante, B De Paepe, ... Human mutation 36 (2), 222-231, 2015 | 64 | 2015 |
| TRMT2B is responsible for both tRNA and rRNA m5U-methylation in human mitochondria CA Powell, M Minczuk RNA biology 17 (4), 451-462, 2020 | 58 | 2020 |
| Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism DG Ryan, M Yang, HA Prag, GR Blanco, E Nikitopoulou, ... Elife 10, e72593, 2021 | 52 | 2021 |
