| 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 | 262 | 2020 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 57 | 2022 |
| Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications PJ Sullivan, V Gayevskiy, RL Davis, M Wong, C Mayoh, ... Genome Biology 24 (1), 118, 2023 | 8 | 2023 |
| Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD Y Hort, P Sullivan, L Wedd, L Fowles, I Stevanovski, I Deveson, C Simons, ... npj Genomic Medicine 8 (1), 16, 2023 | 7 | 2023 |
| A KLHL40 3′ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism LNH Dofash, G Monahan, E Servián-Morilla, E Rivas, F Faiz, P Sullivan, ... Human Molecular Genetics, 2022 | 6 | 2022 |
| Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with … LI Rudaks, E Watson, C Oboudiyat, KR Kumar, P Sullivan, MJ Cowley, ... American Journal of Medical Genetics Part A 188 (7), 2226-2230, 2022 | 3 | 2022 |
| CONGENITAL MYOPATHIES–NEMALINE MYOPATHIES: EP. 34 3′ UTR variant in KLHL40 causes nemaline myopathy L Dofash, F Faiz, E Servian-Morilla, E Rivas, P Sullivan, E Oates, ... Neuromuscular Disorders 31, S60, 2021 | 2 | 2021 |
| Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability MJ Field, R Kumar, A Hackett, S Kayumi, CA Shoubridge, LJ Ewans, ... Human mutation 42 (7), 835-847, 2021 | 1 | 2021 |
| Introme identifies non-canonical splice-altering variants in neuromuscular patients resulting in multiple new genetic diagnoses P Sullivan, C Mayoh, M Wong-Erasmus, V Gayevskiy, S Beecroft, ... NEUROMUSCULAR DISORDERS 30, S144-S144, 2020 | 1 | 2020 |
| SpliceVarDB: A comprehensive database of experimentally validated human splicing variants PJ Sullivan, JMW Quinn, W Wu, M Pinese, MJ Cowley The American Journal of Human Genetics, 2024 | | 2024 |
| Beyond DNA sequencing: genetic kidney disorders related to altered splicing HJ McCarthy, AJ Mallett, P Sullivan, MJ Cowley, AC Mallawaarachchi Nephrology Dialysis Transplantation, gfae022, 2024 | | 2024 |
Mark James CowleyComputational Biology Group leader, Children's Cancer Institute and Associate Professor at UNSW在 ccia.org.au 的电子邮件经过验证
