| New insights into the complex role of mitochondria in Parkinson’s disease A Grünewald, KR Kumar, CM Sue Progress in neurobiology 177, 73-93, 2019 | 382 | 2019 |
| Next-generation sequencing and emerging technologies KR Kumar, MJ Cowley, RL Davis Seminars in thrombosis and hemostasis, 2024 | 363 | 2024 |
| Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort B Mollenhauer, E Trautmann, F Sixel-Döring, T Wicke, J Ebentheuer, ... Neurology 81 (14), 1226-1234, 2013 | 217 | 2013 |
| Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene K Lohmann, RA Wilcox, S Winkler, A Ramirez, A Rakovic, JS Park, B Arns, ... Annals of neurology 73 (4), 537-545, 2013 | 181 | 2013 |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 142 | 2023 |
| Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing I Stevanovski, SR Chintalaphani, H Gamaarachchi, JM Ferguson, ... Science advances 8 (9), eabm5386, 2022 | 139 | 2022 |
| An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics SR Chintalaphani, SS Pineda, IW Deveson, KR Kumar Acta Neuropathologica Communications 9 (1), 98, 2021 | 137 | 2021 |
| 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 | 118 | 2021 |
| Frequency of the D620N mutation in VPS35 in Parkinson disease KR Kumar, A Weissbach, M Heldmann, M Kasten, S Tunc, CM Sue, ... Archives of neurology 69 (10), 1360-1364, 2012 | 118 | 2012 |
| Monogenic Parkinson’s disease: genotype, phenotype, pathophysiology, and genetic testing F Jia, A Fellner, KR Kumar Genes 13 (3), 471, 2022 | 114 | 2022 |
| Genetics of Parkinson disease and other movement disorders KR Kumar, K Lohmann, C Klein Current opinion in neurology 25 (4), 466-474, 2012 | 107 | 2012 |
| Genetics of Parkinson's disease KR Kumar, A Djarmati-Westenberger, A Grünewald Seminars in neurology 31 (05), 433-440, 2011 | 97 | 2011 |
| 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 | 94 | 2020 |
| Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update LM Lange, P Gonzalez‐Latapi, R Rajalingam, MAJ Tijssen, ... Movement Disorders 37 (5), 905-935, 2022 | 92 | 2022 |
| Mutations in GNAL: a novel cause of craniocervical dystonia KR Kumar, K Lohmann, I Masuho, R Miyamoto, A Ferbert, T Lohnau, ... JAMA neurology 71 (4), 490-494, 2014 | 91 | 2014 |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 86 | 2020 |
| Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease JJ Kim, D Vitale, DV Otani, MM Lian, K Heilbron, H Iwaki, J Lake, ... Nature genetics 56 (1), 27-36, 2024 | 85 | 2024 |
| Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: novel clinical and genetic findings KR Kumar, M Needham, K Mina, M Davis, J Brewer, C Staples, K Ng, ... Neuromuscular Disorders 20 (5), 330-334, 2010 | 78 | 2010 |
| Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome S Tisch, KR Kumar Frontiers in neurology 11, 630391, 2021 | 72 | 2021 |
| Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study M Rizig, S Bandres-Ciga, MB Makarious, OO Ojo, PW Crea, OV Abiodun, ... The Lancet Neurology 22 (11), 1015-1025, 2023 | 66 | 2023 |
Carolyn SueProfessor and Kinghorn Chair, University of New South Wales, SydneyVerificeret mail på neura.edu.au