| Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents J Merlevede, N Droin, T Qin, K Meldi, K Yoshida, M Morabito, E Chautard, ... Nature communications 7 (1), 10767, 2016 | 202 | 2016 |
| Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders LJ Ewans, D Schofield, R Shrestha, Y Zhu, V Gayevskiy, K Ying, C Walsh, ... Genetics in Medicine 20 (12), 1564-1574, 2018 | 144 | 2018 |
| Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer M Wong, C Mayoh, LMS Lau, DA Khuong-Quang, M Pinese, A Kumar, ... Nature medicine 26 (11), 1742-1753, 2020 | 143 | 2020 |
| Geographic delineations of yeast communities and populations associated with vines and wines in New Zealand V Gayevskiy, MR Goddard The ISME journal 6 (7), 1281-1290, 2012 | 134 | 2012 |
| Brief report: potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma DS Ziegler, M Wong, C Mayoh, A Kumar, M Tsoli, E Mould, V Tyrrell, ... British Journal of Cancer 119 (6), 693-696, 2018 | 100 | 2018 |
| A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders LG Riley, MJ Cowley, V Gayevskiy, T Roscioli, DR Thorburn, K Prelog, ... Journal of inherited metabolic disease 40, 261-269, 2017 | 98 | 2017 |
| Saccharomyces eubayanus and Saccharomyces arboricola reside in North Island native New Zealand forests V Gayevskiy, MR Goddard Environmental microbiology 18 (4), 1137-1147, 2016 | 87 | 2016 |
| MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ... The American Journal of Human Genetics 99 (6), 1229-1244, 2016 | 74 | 2016 |
| Global phosphoproteomic mapping of early mitotic exit in human cells identifies novel substrate dephosphorylation motifs RA McCloy, BL Parker, S Rogers, R Chaudhuri, V Gayevskiy, NJ Hoffman, ... Molecular & Cellular Proteomics 14 (8), 2194-2212, 2015 | 63 | 2015 |
| Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy AE Minoche, C Horvat, R Johnson, V Gayevskiy, SU Morton, AP Drew, ... Genetics in Medicine 21 (3), 650-662, 2019 | 55 | 2019 |
| ObStruct: a method to objectively analyse factors driving population structure using Bayesian ancestry profiles V Gayevskiy, S Klaere, S Knight, MR Goddard PLoS One 9 (1), e85196, 2014 | 48 | 2014 |
| Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity NW Zammit, OM Siggs, PE Gray, K Horikawa, DB Langley, SN Walters, ... Nature immunology 20 (10), 1299-1310, 2019 | 47 | 2019 |
| The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease LG Riley, MJ Cowley, V Gayevskiy, AE Minoche, C Puttick, DR Thorburn, ... Genetics in Medicine 22 (7), 1254-1261, 2020 | 44 | 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 | 42 | 2021 |
| 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 | 37 | 2019 |
| Seave: a comprehensive web platform for storing and interrogating human genomic variation V Gayevskiy, T Roscioli, ME Dinger, MJ Cowley Bioinformatics 35 (1), 122-125, 2019 | 36 | 2019 |
| Mutational patterns in metastatic cutaneous squamous cell carcinoma SA Mueller, MEA Gauthier, B Ashford, R Gupta, V Gayevskiy, S Ch’ng, ... Journal of investigative dermatology 139 (7), 1449-1458. e1, 2019 | 35 | 2019 |
| Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing KR Kumar, GM Wali, M Kamate, G Wali, AE Minoche, C Puttick, M Pinese, ... Neurogenetics 17, 265-270, 2016 | 34 | 2016 |
| Increased diagnostic yield of spastic paraplegia with or without cerebellar ataxia through whole-genome sequencing A Kim, KR Kumar, RL Davis, AC Mallawaarachchi, V Gayevskiy, ... The Cerebellum 18, 781-790, 2019 | 32 | 2019 |
| Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours SMC De Sousa, MJ McCabe, K Wu, T Roscioli, V Gayevskiy, K Brook, ... European Journal of Endocrinology 176 (5), 635-644, 2017 | 32 | 2017 |
