| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, K McSweeney, B Ben-Zeev, ... Genetics in Medicine 17 (10), 774-781, 2015 | 353 | 2015 |
| Rare variant contribution to human disease in 281,104 UK Biobank exomes Q Wang*, RS Dhindsa*, K Carss*, AR Harper, A Nag, I Tachmazidou, ... Nature, 1-9, 2021 | 251 | 2021 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 230 | 2019 |
| Plasma proteomic associations with genetics and health in the UK Biobank BB Sun, J Chiou, M Traylor, C Benner, YH Hsu, TG Richardson, ... Nature 622 (7982), 329-338, 2023 | 142* | 2023 |
| Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis RS Dhindsa, SS Bradrick, X Yao, EL Heinzen, S Petrovski, BJ Krueger, ... Neurology: Genetics 1 (1), e4, 2015 | 58 | 2015 |
| TMPRSS2 Transcriptional Inhibition as a Therapeutic Strategy for COVID-19 X Wang, R Dhindsa, G Povysil, A Zoghbi, J Motelow, J Hostyk, N Nickols, ... | 55* | 2020 |
| Natural selection shapes codon usage in the human genome RS Dhindsa, BR Copeland, AM Mustoe, DB Goldstein The American Journal of Human Genetics 107 (1), 83-95, 2020 | 53 | 2020 |
| Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning D Vitsios, RS Dhindsa, L Middleton, AB Gussow, S Petrovski Nature communications 12 (1), 1504, 2021 | 52 | 2021 |
| Schizophrenia: From genetics to physiology at last RS Dhindsa, DB Goldstein Nature 530 (7589), 162-163, 2016 | 42 | 2016 |
| Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis RS Dhindsa, J Mattsson, A Nag, Q Wang, LV Wain, R Allen, EM Wigmore, ... Communications Biology 4 (1), 1-8, 2021 | 40 | 2021 |
| Orion: detecting regions of the human non-coding genome that are intolerant to variation using population genetics AB Gussow, BR Copeland, RS Dhindsa, Q Wang, S Petrovski, ... PloS one 12 (8), e0181604, 2017 | 40 | 2017 |
| High-impact rare genetic variants in severe schizophrenia AW Zoghbi, RS Dhindsa, TE Goldberg, A Mehralizade, JE Motelow, ... Proceedings of the National Academy of Sciences 118 (51), e2112560118, 2021 | 37 | 2021 |
| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 36 | 2021 |
| meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays S Gelfman, Q Wang, YF Lu, D Hall, CD Bostick, R Dhindsa, M Halvorsen, ... PLoS computational biology 14 (10), e1006506, 2018 | 28 | 2018 |
| Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition S Petrovski, V Shashi, S Petrou, K Schoch, KM McSweeney, RS Dhindsa, ... Molecular Case Studies 1 (1), a000257, 2015 | 25 | 2015 |
| Rare variant associations with plasma protein levels in the UK Biobank RS Dhindsa, OS Burren, BB Sun, BP Prins, D Matelska, E Wheeler, ... Nature 622 (7982), 339-347, 2023 | 22* | 2023 |
| A minimal role for synonymous variation in human disease RS Dhindsa, Q Wang, D Vitsios, OS Burren, F Hu, JE DiCarlo, L Kruglyak, ... The American Journal of Human Genetics 109 (12), 2105-2109, 2022 | 22 | 2022 |
| Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes A Nag*, RS Dhindsa*, J Mitchell, C Vasavda, AR Harper, D Vitsios, ... Science Advances 8 (46), eadd5430, 2022 | 21* | 2022 |
| Epilepsy in a mouse model of GNB1 Encephalopathy arises from altered potassium channel (GIRK) signaling and is alleviated by a GIRK inhibitor S Colombo, HP Reddy, S Petri, DJ Williams, B Shalomov, RS Dhindsa, ... Frontiers in Cellular Neuroscience 17, 182, 2023 | 18* | 2023 |
| Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank A Nag, RS Dhindsa, L Middleton, X Jiang, D Vitsios, E Wigmore, ... The American Journal of Human Genetics 110 (3), 487-498, 2023 | 18* | 2023 |
Slavé PetrovskiAstraZeneca; University of MelbourneVerified email at unimelb.edu.au
