| Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits E Evangelou, HR Warren, D Mosen-Ansorena, B Mifsud, R Pazoki, H Gao, ... Nature genetics 50 (10), 1412-1425, 2018 | 1142 | 2018 |
| The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals GB Ehret, T Ferreira, DI Chasman, AU Jackson, EM Schmidt, T Johnson, ... Nature genetics 48 (10), 1171-1184, 2016 | 429 | 2016 |
| SLC2A9 is a high-capacity urate transporter in humans MJ Caulfield, PB Munroe, D O'Neill, K Witkowska, FJ Charchar, ... PLoS medicine 5 (10), e197, 2008 | 426 | 2008 |
| Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension P Surendran, F Drenos, R Young, H Warren, JP Cook, AK Manning, ... Nature genetics 48 (10), 1151-1161, 2016 | 315 | 2016 |
| Facilitated hexose transporters: new perspectives on form and function AR Manolescu, K Witkowska, A Kinnaird, T Cessford, C Cheeseman Physiology 22 (4), 234-240, 2007 | 310 | 2007 |
| Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci V Tragante, MR Barnes, SK Ganesh, MB Lanktree, W Guo, ... The American Journal of Human Genetics 94 (3), 349-360, 2014 | 179 | 2014 |
| Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 89 | 2022 |
| Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project G Wheway, Genomics England Research Consortium, HM Mitchison Frontiers in genetics 10, 127, 2019 | 89 | 2019 |
| Million Veteran Program E Evangelou, HR Warren, D Mosen-Ansorena, B Mifsud, R Pazoki, H Gao, ... Genetic analysis of over 1, 1755 | 89 | 1755 |
| Human SLC2A9a and SLC2A9b isoforms mediate electrogenic transport of urate with different characteristics in the presence of hexoses K Witkowska, KM Smith, SYM Yao, AML Ng, D O'Neill, E Karpinski, ... American Journal of Physiology-Renal Physiology 303 (4), F527-F539, 2012 | 76 | 2012 |
| Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 66 | 2021 |
| A blood pressure-associated variant of the SLC39A8 gene influences cellular cadmium accumulation and toxicity R Zhang, K Witkowska, J Afonso Guerra-Assunção, M Ren, FL Ng, ... Human molecular genetics 25 (18), 4117-4126, 2016 | 52 | 2016 |
| CHARGE-EchoGen consortium; CHARGE-HF consortium; Wellcome Trust Case Control Consortium. The genetics of blood pressure regulation and its target organs from association … GB Ehret, T Ferreira, DI Chasman, AU Jackson, EM Schmidt, T Johnson, ... Nat Genet 48 (10), 1171-1184, 2016 | 46 | 2016 |
| Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis A Shoemark, H Griffin, G Wheway, C Hogg, JS Lucas, C Camps, J Taylor, ... European Respiratory Journal 60 (5), 2022 | 28 | 2022 |
| Increased NBCn1 expression, Na+/ co-transport and intracellular pH in human vascular smooth muscle cells with a risk allele for hypertension FL Ng, E Boedtkjer, K Witkowska, M Ren, R Zhang, A Tucker, C Aalkjær, ... Human molecular genetics 26 (5), 989-1002, 2017 | 25 | 2017 |
| The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle M Ren, FL Ng, HR Warren, K Witkowska, M Baron, Z Jia, C Cabrera, ... Human molecular genetics 27 (1), 199-210, 2018 | 24 | 2018 |
| Critical roles of two hydrophobic residues within human glucose transporter 9 (hSLC2A9) in substrate selectivity and urate transport W Long, P Panwar, K Witkowska, K Wong, D O'Neill, XZ Chen, ... Journal of Biological Chemistry 290 (24), 15292-15303, 2015 | 23 | 2015 |
| An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy AT Pagnamenta, R Kaiyrzhanov, Y Zou, SI Da'as, R Maroofian, ... Brain 144 (2), 584-600, 2021 | 22 | 2021 |
| De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas D Tolchin, JP Yeager, P Prasad, N Dorrani, AS Russi, JA Martinez-Agosto, ... The American Journal of Human Genetics 106 (6), 830-845, 2020 | 22 | 2020 |
| SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey, M Levy, ... Genetics in medicine 24 (6), 1261-1273, 2022 | 20 | 2022 |
