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
1144 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 Million Veteran Program E Evangelou, HR Warren, D Mosen-Ansorena, B Mifsud, R Pazoki, H Gao, ...
Genetic analysis of over 1, 1755
90 1755 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 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+ / 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
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