|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), 1-13, 2016
|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
|Saccharomyces eubayanus and Saccharomyces arboricola reside in North Island native New Zealand forests|
V Gayevskiy, MR Goddard
Environmental microbiology 18 (4), 1137-1147, 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
|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
|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 (2), 261-269, 2017
|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
|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
|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
|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, 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 (4), 265-270, 2016
|Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours|
SM De Sousa, MJ McCabe, K Wu, T Roscioli, V Gayevskiy, K Brook, ...
Eur J Endocrinol 176 (5), 635-644, 2017
|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
|Unique presentation of cutis laxa with Leigh‐like syndrome due to ECHS1 deficiency|
S Balasubramaniam, LG Riley, D Bratkovic, D Ketteridge, N Manton, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017
|Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”|
EP Kirk, K Barlow-Stewart, A Selvanathan, S Josephi-Taylor, L Worgan, ...
Genetics in Medicine 21 (3), 608, 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
|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
|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 (4), 781-790, 2019
|Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child|
R Rius, LG Riley, Y Guo, M Menezes, AG Compton, NJ Van Bergen, ...
Molecular genetics and metabolism 126 (1), 77-82, 2019
|EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders|
S Balasubramaniam, LG Riley, A Vasudevan, MJ Cowley, V Gayevskiy, ...
JIMD Reports, Volume 42, 19-29, 2017