| Recent advances in understanding the molecular genetic basis of mitochondrial disease K Thompson, JJ Collier, RIC Glasgow, FM Robertson, A Pyle, EL Blakely, ... Journal of inherited metabolic disease 43 (1), 36-50, 2020 | 168 | 2020 |
| Mitochondrial OXPHOS biogenesis: co-regulation of protein synthesis, import, and assembly pathways JX Tang, K Thompson, RW Taylor, M Oláhová International Journal of Molecular Sciences 21 (11), 3820, 2020 | 155 | 2020 |
| Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ... The American Journal of Human Genetics 99 (4), 860-876, 2016 | 142 | 2016 |
| Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies MD Metodiev, K Thompson, CL Alston, AAM Morris, L He, Z Assouline, ... The American Journal of Human Genetics 98 (5), 993-1000, 2016 | 124 | 2016 |
| The isolation of respiratory syncytial virus from children with acute respiratory disease. A Holzel, L Parker, WH Patterson, LLR White, KM Thompson, JOH Tobin | 87 | 1963 |
| Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 85 | 2018 |
| OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect K Thompson, N Mai, M Oláhová, F Scialó, LE Formosa, DA Stroud, ... EMBO Molecular Medicine 10 (11), e9060, 2018 | 84 | 2018 |
| Virus isolations from throats of children admitted to hospital with respiratory and other diseases, Manchester 1962–4 A Holzel, L Parker, WH Patterson, D Cartmel, LLR White, R Purdy, ... British Medical Journal 1 (5435), 614, 1965 | 82 | 1965 |
| Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, ... The American Journal of Human Genetics 101 (4), 525-538, 2017 | 76 | 2017 |
| Clinical presentation and proteomic signature of patients with TANGO2 mutations N Mingirulli, A Pyle, D Hathazi, CL Alston, N Kohlschmidt, G O'Grady, ... Journal of Inherited Metabolic Disease 43 (2), 297-308, 2020 | 57 | 2020 |
| A Wars2 mutant mouse model displays OXPHOS deficiencies and activation of tissue-specific stress response pathways T Agnew, M Goldsworthy, C Aguilar, A Morgan, M Simon, H Hilton, ... Cell reports 25 (12), 3315-3328. e6, 2018 | 42 | 2018 |
| Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism EA Burke, SJ Frucht, K Thompson, LA Wolfe, T Yokoyama, M Bertoni, ... Clinical genetics 93 (3), 712-718, 2018 | 41 | 2018 |
| Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations I Hochberg, LAM Demain, J Richer, K Thompson, JE Urquhart, A Rea, ... The American Journal of Human Genetics 108 (11), 2195-2204, 2021 | 39 | 2021 |
| Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) G Zagnoli-Vieira, F Bruni, K Thompson, L He, S Walker, APM de Brouwer, ... Neurology: Genetics 4 (4), e262, 2018 | 39 | 2018 |
| Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults M Charif, A Nasca, K Thompson, S Gerber, C Makowski, N Mazaheri, ... JAMA neurology 75 (1), 105-113, 2018 | 36 | 2018 |
| Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy D Pacheu-Grau, S Callegari, S Emperador, K Thompson, A Aich, ... Human Molecular Genetics 27 (23), 4135-4144, 2018 | 34 | 2018 |
| Dihydroceramide desaturase knockdown impacts sphingolipids and apoptosis after photodamage in human head and neck squamous carcinoma cells P Breen, N Joseph, K Thompson, JM Kraveka, TI Gudz, LI Li, ... Anticancer research 33 (1), 77-84, 2013 | 32 | 2013 |
| Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features R Oliveira, EW Sommerville, K Thompson, J Nunes, A Pyle, M Grazina, ... JIMD Reports, Volume 33, 61-68, 2017 | 31 | 2017 |
| Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations S Brito, K Thompson, J Campistol, J Colomer, SA Hardy, L He, ... Frontiers in genetics 6, 102, 2015 | 31 | 2015 |
| Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis H Hayhurst, IFM de Coo, D Piekutowska‐Abramczuk, CL Alston, ... Annals of clinical and translational neurology 6 (3), 515-524, 2019 | 30 | 2019 |
