| PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ... Nature genetics 51 (11), 1560-1565, 2019 | 323 | 2019 |
| Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations IUS Leong, A Stuckey, D Lai, JR Skinner, DR Love BMC medical genetics 16, 1-13, 2015 | 107 | 2015 |
| Zebrafish as a model for long QT syndrome: the evidence and the means of manipulating zebrafish gene expression IUS Leong, JR Skinner, AN Shelling, DR Love Acta physiologica 199 (3), 257-276, 2010 | 88 | 2010 |
| The gene curation coalition: a global effort to harmonize gene–disease evidence resources MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ... Genetics in Medicine 24 (8), 1732-1742, 2022 | 66 | 2022 |
| Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution Z Stark, RE Foulger, E Williams, BA Thompson, C Patel, S Lunke, C Snow, ... The American Journal of Human Genetics 108 (9), 1551-1557, 2021 | 45 | 2021 |
| Quantitative real-time RT-PCR (qRT-PCR) of zebrafish transcripts: optimization of RNA extraction, quality control considerations, and data analysis CC Lan, R Tang, IU San Leong, DR Love Cold Spring Harbor Protocols 2009 (10), pdb. prot5314, 2009 | 38 | 2009 |
| Identification and expression analysis of kcnh2 genes in the zebrafish IU San Leong, JR Skinner, AN Shelling, DR Love Biochemical and Biophysical Research Communications 396 (4), 817-824, 2010 | 32 | 2010 |
| Novel mutations in Darier disease and association to self-reported disease severity IUS Leong, A Stuckey, T Ahanian, M Cederlöf, JD Wikstrom PLoS One 12 (10), e0186356, 2017 | 23 | 2017 |
| Darier disease is associated with heart failure: a cross-sectional case-control and population based study E Bachar-Wikstrom, P Curman, T Ahanian, IUS Leong, H Larsson, ... Scientific reports 10 (1), 6886, 2020 | 17 | 2020 |
| In Vivo Testing of MicroRNA-Mediated Gene Knockdown in Zebrafish IUS Leong, CC Lan, JR Skinner, AN Shelling, DR Love BioMed Research International 2012, 2012 | 16 | 2012 |
| Darier disease is associated with type 1 diabetes: findings from a population-based cohort study M Cederlöf, P Curman, T Ahanian, IUS Leong, K Brismar, ... Journal of the American Academy of Dermatology 81 (6), 1425-1426, 2019 | 15 | 2019 |
| Targeted mutagenesis of zebrafish: use of zinc finger nucleases IUS Leong, D Lai, CC Lan, R Johnson, DR Love, R Johnson, DR Love Birth Defects Research Part C: Embryo Today: Reviews 93 (3), 249-255, 2011 | 14 | 2011 |
| Metabolic phenotype in Darier disease: a cross-sectional clinical study T Ahanian, P Curman, IUS Leong, K Brismar, E Bachar-Wikstrom, ... Diabetology & Metabolic Syndrome 12, 1-4, 2020 | 13 | 2020 |
| Application of massively parallel sequencing in the clinical diagnostic testing of inherited cardiac conditions IUS Leong, JR Skinner, DR Love Medical Sciences 2 (2), 98-126, 2014 | 12 | 2014 |
| Expression of a mutant kcnj2 gene transcript in zebrafish IUS Leong, JR Skinner, AN Shelling, DR Love International Scholarly Research Notices 2014, 2014 | 12 | 2014 |
| Disease modeling by gene targeting using microRNAs CC Lan, IUS Leong, D Lai, DR Love Methods in cell biology 105, 419-436, 2011 | 8 | 2011 |
| Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene IUS Leong, A Stuckey, D Lai, JR Skinner, DR Love BMC Medical Genetics 16, 34, 2015 | 7 | 2015 |
| Splice site variants in the KCNQ1 and SCN5A genes: transcript analysis as a tool in supporting pathogenicity IUS Leong, PA Dryland, DO Prosser, SWS Lai, M Graham, M Stiles, ... Journal of Clinical Medicine Research 9 (8), 709, 2017 | 6 | 2017 |
| SNP analysis and whole exome sequencing: their application in the analysis of a consanguineous pedigree segregating Ataxia SL Nickerson, R Marquis-Nicholson, K Claxton, F Ashton, IUS Leong, ... Microarrays 4 (4), 490-502, 2015 | 6 | 2015 |
| Massively parallel sequencing of genes implicated in heritable cardiac disorders: a strategy for a Small diagnostic laboratory IUS Leong, A Stuckey, D Belluoccio, V Fan, JR Skinner, DO Prosser, ... Medical Sciences 5 (4), 22, 2017 | 4 | 2017 |
