| Mitochondrial dysfunction in Parkinson’s disease: new mechanistic insights and therapeutic perspectives JS Park, RL Davis, CM Sue Current neurology and neuroscience reports 18, 1-11, 2018 | 573 | 2018 |
| Next-generation sequencing and emerging technologies KR Kumar, MJ Cowley, RL Davis Seminars in thrombosis and hemostasis, 2024 | 340 | 2024 |
| Parkinson’s disease and the gastrointestinal microbiome M Lubomski, AH Tan, SY Lim, AJ Holmes, RL Davis, CM Sue Journal of neurology 267, 2507-2523, 2020 | 177 | 2020 |
| Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease RL Davis, C Liang, F Edema-Hildebrand, C Riley, M Needham, CM Sue Neurology 81 (21), 1819-1826, 2013 | 143 | 2013 |
| Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy R Ghaoui, J Palmio, J Brewer, M Lek, M Needham, A Evilä, P Hackman, ... Neurology 86 (4), 391-398, 2016 | 136 | 2016 |
| Adult-only exposure of male rats to a diet of high phytoestrogen content increases apoptosis of meiotic and post-meiotic germ cells S Assinder, R Davis, M Fenwick, A Glover Reproduction 133 (1), 11-19, 2007 | 132 | 2007 |
| Targeting mitochondrial impairment in Parkinson's disease: challenges and opportunities J Prasuhn, RL Davis, KR Kumar Frontiers in cell and developmental biology 8, 615461, 2021 | 113 | 2021 |
| A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases RL Davis, C Liang, CM Sue Neurology 86 (21), 2010-2015, 2016 | 112 | 2016 |
| Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy P Kabunga, AK Lau, K Phan, R Puranik, C Liang, RL Davis, CM Sue, ... International Journal of Cardiology 181, 303-310, 2015 | 111 | 2015 |
| Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 89 | 2020 |
| Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ... Neurology 96 (13), e1770-e1782, 2021 | 87 | 2021 |
| Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia MJ Menezes, Y Guo, J Zhang, LG Riley, ST Cooper, DR Thorburn, J Li, ... Human Molecular Genetics 24 (8), 2297-2307, 2015 | 82 | 2015 |
| LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure LG Riley, J Rudinger-Thirion, K Schmitz-Abe, DR Thorburn, RL Davis, ... JIMD Reports, Volume 28, 49-57, 2016 | 76 | 2016 |
| Gastrointestinal dysfunction in Parkinson’s disease M Lubomski, RL Davis, CM Sue Journal of neurology 267, 1377-1388, 2020 | 69 | 2020 |
| Mitochondrial diseases RL Davis, C Liang, CM Sue Handbook of clinical neurology 147, 125-141, 2018 | 65 | 2018 |
| A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can … RL Davis, VM Homer, PM George, SO Brennan Human mutation 30 (2), 221-227, 2009 | 61 | 2009 |
| Diagnosis of ‘possible’mitochondrial disease: an existential crisis S Parikh, A Karaa, A Goldstein, ES Bertini, PF Chinnery, J Christodoulou, ... Journal of medical genetics 56 (3), 123-130, 2019 | 59 | 2019 |
| Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes KR Kumar, RL Davis, MC Tchan, GM Wali, N Mahant, K Ng, K Kotschet, ... Parkinsonism & Related Disorders 69, 111-118, 2019 | 57 | 2019 |
| A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological … A Diot, A Hinks-Roberts, T Lodge, C Liao, E Dombi, K Morten, S Brady, ... Pharmacological research 100, 24-35, 2015 | 56 | 2015 |
| The genetics of mitochondrial disease RL Davis, CM Sue Seminars in neurology 31 (05), 519-530, 2011 | 54 | 2011 |