Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ... The Lancet Neurology 16 (9), 701-711, 2017 | 331 | 2017 |
Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration J Curtis, Y Luo, HL Zenner, D Cuchet-Lourenço, C Wu, K Lo, M Maes, ... Nature genetics 47 (5), 523-527, 2015 | 202 | 2015 |
Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis P Fratta, P Sivakumar, J Humphrey, K Lo, T Ricketts, H Oliveira, ... The EMBO journal 37 (11), e98684, 2018 | 172 | 2018 |
scMerge leverages factor analysis, stable expression, and pseudoreplication to merge multiple single-cell RNA-seq datasets Y Lin, S Ghazanfar, KYX Wang, JA Gagnon-Bartsch, KK Lo, X Su, ZG Han, ... Proceedings of the National Academy of Sciences 116 (20), 9775-9784, 2019 | 161 | 2019 |
MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1 M Flower, V Lomeikaite, M Ciosi, S Cumming, F Morales, K Lo, ... Brain 142 (7), 1876-1886, 2019 | 157 | 2019 |
VAST: an ASKAP survey for variables and slow transients T Murphy, S Chatterjee, DL Kaplan, J Banyer, ME Bell, HE Bignall, ... Publications of the Astronomical Society of Australia 30, e006, 2013 | 155 | 2013 |
Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities KK Lo, E Karampetsou, C Boustred, F McKay, S Mason, M Hill, V Plagnol, ... The American Journal of Human Genetics 98 (1), 34-44, 2016 | 138 | 2016 |
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’knockin mice A Devoy, B Kalmar, M Stewart, H Park, B Burke, SJ Noy, Y Redhead, ... Brain 140 (11), 2797-2805, 2017 | 131 | 2017 |
A transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi syndrome EG Bochukova, K Lawler, S Croizier, JM Keogh, N Patel, G Strohbehn, ... Cell reports 22 (13), 3401-3408, 2018 | 102 | 2018 |
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol M Hill, D Wright, R Daley, C Lewis, F McKay, S Mason, N Lench, ... BMC pregnancy and childbirth 14, 1-10, 2014 | 99 | 2014 |
Sierra: discovery of differential transcript usage from polyA-captured single-cell RNA-seq data R Patrick, DT Humphreys, V Janbandhu, A Oshlack, JWK Ho, RP Harvey, ... Genome biology 21, 1-27, 2020 | 80 | 2020 |
RNA-Seq of Huntington’s disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation JRC Miller, KK Lo, R Andre, DJ Hensman Moss, U Träger, TC Stone, ... Human molecular genetics 25 (14), 2893-2904, 2016 | 63 | 2016 |
Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease DJ Hensman Moss, MD Flower, KK Lo, JRC Miller, GJB van Ommen, ... Scientific reports 7 (1), 44849, 2017 | 58 | 2017 |
scDC: single cell differential composition analysis Y Cao, Y Lin, JT Ormerod, P Yang, JYH Yang, KK Lo BMC bioinformatics 20, 1-12, 2019 | 51 | 2019 |
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy KK Lo, C Boustred, LS Chitty, V Plagnol Bioinformatics 30 (20), 2965-2967, 2014 | 44 | 2014 |
Implementing non-invasive prenatal diagnosis (NIPD) in a National Health Service Laboratory; from dominant to recessive disorders S Drury, S Mason, F McKay, K Lo, C Boustred, L Jenkins, LS Chitty Circulating Nucleic Acids in Serum and Plasma–CNAPS IX, 71-75, 2016 | 42 | 2016 |
Radio detections of southern ultracool dwarfs C Lynch, T Murphy, V Ravi, G Hobbs, K Lo, C Ward Monthly Notices of the Royal Astronomical Society 457 (2), 1224-1232, 2016 | 40 | 2016 |
Altered serum protein levels in frontotemporal dementia and amyotrophic lateral sclerosis indicate calcium and immunity dysregulation JS Katzeff, F Bright, K Lo, JJ Kril, A Connolly, B Crossett, LM Ittner, ... Scientific reports 10 (1), 13741, 2020 | 39 | 2020 |
Autoclassification of the variable 3xmm sources using the random forest machine learning algorithm SA Farrell, T Murphy, KK Lo The Astrophysical Journal 813 (1), 28, 2015 | 39 | 2015 |
Automatic classification of time-variable X-ray sources KK Lo, S Farrell, T Murphy, BM Gaensler The Astrophysical Journal 786 (1), 20, 2014 | 35 | 2014 |