| The UK10K project identifies rare variants in health and disease Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ... Nature 526 (7571), 82-90, 2015 | 1097 | 2015 |
| Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study PJ Talmud, S Shah, R Whittall, M Futema, P Howard, JA Cooper, ... The Lancet 381 (9874), 1293-1301, 2013 | 663 | 2013 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 417 | 2015 |
| Child–parent familial hypercholesterolemia screening in primary care DS Wald, JP Bestwick, JK Morris, K Whyte, L Jenkins, NJ Wald New England Journal of Medicine 375 (17), 1628-1637, 2016 | 333 | 2016 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 247 | 2016 |
| Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in … M Futema, S Shah, JA Cooper, KW Li, RA Whittall, M Sharifi, O Goldberg, ... Clinical chemistry 61 (1), 231-238, 2015 | 233 | 2015 |
| Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations M Futema, V Plagnol, KW Li, RA Whittall, HAW Neil, M Seed, S Bertolini, ... Journal of medical genetics 51 (8), 537-544, 2014 | 149 | 2014 |
| Genetic architecture of familial hypercholesterolaemia M Sharifi, M Futema, D Nair, SE Humphries Current cardiology reports 19, 1-8, 2017 | 127 | 2017 |
| Whole-genome sequence-based analysis of thyroid function PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ... Nature communications 6 (1), 5681, 2015 | 113 | 2015 |
| Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, ... Atherosclerosis 229 (1), 161-168, 2013 | 112 | 2013 |
| The UCL low-density lipoprotein receptor gene variant database: pathogenicity update S Leigh, M Futema, R Whittall, A Taylor-Beadling, M Williams, ... Journal of medical genetics 54 (4), 217-223, 2017 | 109 | 2017 |
| Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia M Futema, V Plagnol, RA Whittall, HAW Neil, SE Humphries Journal of medical genetics 49 (10), 644-649, 2012 | 108 | 2012 |
| Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations J Rainger, D Pehlivan, S Johansson, H Bengani, L Sanchez-Pulido, ... The American Journal of Human Genetics 94 (6), 915-923, 2014 | 93 | 2014 |
| UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits DJ Thompson, D Wells, S Selzam, I Peneva, R Moore, K Sharp, ... MedRxiv, 2022.06. 16.22276246, 2022 | 92 | 2022 |
| Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, ... Atherosclerosis 263, 405-411, 2017 | 92 | 2017 |
| A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans NJ Timpson, K Walter, JL Min, I Tachmazidou, G Malerba, SY Shin, ... Nature communications 5 (1), 4871, 2014 | 81 | 2014 |
| Polygenic hypercholesterolemia and cardiovascular disease risk M Sharifi, M Futema, D Nair, SE Humphries Current Cardiology Reports 21, 1-6, 2019 | 80 | 2019 |
| Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype CL Hall, MM Akhtar, M Sabater-Molina, M Futema, A Asimaki, ... International journal of cardiology 307, 101-108, 2020 | 73 | 2020 |
| Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia M Futema, M Bourbon, M Williams, SE Humphries Atherosclerosis 277, 457-463, 2018 | 67 | 2018 |
| Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy LR Lopes, S Garcia-Hernández, M Lorenzini, M Futema, O Chumakova, ... European heart journal 42 (32), 3063-3073, 2021 | 66 | 2021 |
