| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 505 | 2020 |
| 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 597 (7877), 527-532, 2021 | 367 | 2021 |
| Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity AR Harper, A Goel, C Grace, KL Thomson, SE Petersen, X Xu, A Waring, ... Nature Genetics 53 (2), 135-142, 2021 | 255 | 2021 |
| Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM registry S Neubauer, P Kolm, CY Ho, RY Kwong, MY Desai, SF Dolman, ... Journal of the American College of Cardiology 74 (19), 2333-2345, 2019 | 253 | 2019 |
| Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect R Tadros, C Francis, X Xu, AMC Vermeer, AR Harper, R Huurman, ... Nature genetics 53 (2), 128-134, 2021 | 233 | 2021 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 216 | 2019 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ... Nature 583 (7814), 90-95, 2020 | 208 | 2020 |
| Pharmacogenomics in clinical practice and drug development AR Harper, EJ Topol Nature biotechnology 30 (11), 1117-1124, 2012 | 137 | 2012 |
| Protective alleles and modifier variants in human health and disease AR Harper, S Nayee, EJ Topol Nature Reviews Genetics 16 (12), 689-701, 2015 | 129 | 2015 |
| Chronic activation of γ2 AMPK induces obesity and reduces β cell function A Yavari, CJ Stocker, S Ghaffari, ET Wargent, V Steeples, G Czibik, ... Cell metabolism 23 (5), 821-836, 2016 | 111 | 2016 |
| 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 | 90 | 2023 |
| Resistance of Dynamin-related protein 1 Oligomers to Disassembly Impairs Mitophagy Resulting in Myocardial Inflammation and Heart failure. TJ Cahill, V Leo, M Kelly, A Stockenhuber, NW Kennedy, L Bao, ... J Biol Chem, 2015 | 74 | 2015 |
| Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield KL Thomson, E Ormondroyd, AR Harper, T Dent, K McGuire, J Baksi, ... Genetics in Medicine 21 (7), 1576-1584, 2019 | 60 | 2019 |
| Association of titin-truncating genetic variants with life-threatening cardiac arrhythmias in patients with dilated cardiomyopathy and implanted defibrillators B Corden, J Jarman, N Whiffin, U Tayal, R Buchan, J Sehmi, A Harper, ... JAMA Network Open 2 (6), e196520-e196520, 2019 | 57 | 2019 |
| Heart failure with preserved ejection fraction. AR Harper, HC Patel, AR Lyon Clin Med (Lond) 1 (18:Suppl 2), s24-s29, 2018 | 51 | 2018 |
| Outcome following heart transplant assessment in adults with congenital heart disease DS Crossland, K Jansen, G Parry, A Harper, G Perri, A Davidson, ... Heart 105 (22), 1741-1747, 2019 | 44 | 2019 |
| Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy AR Harper, M Bowman, JBG Hayesmoore, H Sage, S Salatino, E Blair, ... Circulation: Genomic and Precision Medicine 13 (3), e002783, 2020 | 39 | 2020 |
| DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets A Raies, E Tulodziecka, J Stainer, L Middleton, RS Dhindsa, P Hill, ... Communications Biology 5 (1), 1291, 2022 | 32 | 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 | 32* | 2022 |
| GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements PH Dixon, AP Levine, I Cebola, MMY Chan, AS Amin, A Aich, M Mozere, ... Nature communications 13 (1), 4840, 2022 | 32 | 2022 |
Slavé PetrovskiAstraZeneca Centre for Genomics ResearchПотвърден имейл адрес: unimelb.edu.au