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Omid Sadeghi-Alavijeh
Omid Sadeghi-Alavijeh
在 ucl.ac.uk 的电子邮件经过验证 - 首页
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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
4652020
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
1982020
Nitric oxide donors for cardiovascular implant applications
N Naghavi, A de Mel, OS Alavijeh, BG Cousins, AM Seifalian
Small 9 (1), 22-35, 2013
1962013
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
J Gibson, R Fieldhouse, MMY Chan, O Sadeghi-Alavijeh, L Burnett, V Izzi, ...
Journal of the American Society of Nephrology 32 (9), 2273-2290, 2021
1242021
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith, AG Lynch
Scientific reports 8 (1), 1300, 2018
692018
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
EM Swietlik, D Greene, N Zhu, K Megy, M Cogliano, S Rajaram, ...
Circulation: Genomic and Precision Medicine 14 (1), e003155, 2021
472021
Large-scale whole-genome sequencing reveals the genetic architecture of primary membranoproliferative GN and C3 glomerulopathy
AP Levine, MMY Chan, O Sadeghi-Alavijeh, EKS Wong, HT Cook, ...
Journal of the American Society of Nephrology 31 (2), 365-373, 2020
432020
Evaluation of a digitally-enabled care pathway for acute kidney injury management in hospital emergency admissions
A Connell, H Montgomery, P Martin, C Nightingale, O Sadeghi-Alavijeh, ...
NPJ digital medicine 2 (1), 67, 2019
382019
De novo truncating mutations in WASF1 cause intellectual disability with seizures
Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ...
The American Journal of Human Genetics 103 (1), 144-153, 2018
382018
Genotype–phenotype correlations for COL4A3COL4A5 variants resulting in Gly substitutions in Alport syndrome
JT Gibson, M Huang, M Shenelli Croos Dabrera, K Shukla, H Rothe, ...
Scientific Reports 12 (1), 2722, 2022
302022
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
262022
Service evaluation of the implementation of a digitally-enabled care pathway for the recognition and management of acute kidney injury
A Connell, H Montgomery, S Morris, C Nightingale, S Stanley, M Emerson, ...
F1000Research 6, 2017
212017
Implementation of a digitally enabled care pathway (part 1): impact on clinical outcomes and associated health care costs
A Connell, R Raine, P Martin, EC Barbosa, S Morris, C Nightingale, ...
Journal of medical Internet research 21 (7), e13147, 2019
202019
Differences in prevalence of muscle weakness (sarcopenia) in haemodialysis patients determined by hand grip strength due to variation in guideline definitions of sarcopenia
K Tangvoraphonkchai, R Hung, O Sadeghi‐Alavijeh, A Davenport
Nutrition in Clinical Practice 33 (2), 255-260, 2018
182018
New and developing therapies for AL amyloidosis
G Zumbo, O Sadeghi-Alavijeh, PN Hawkins, M Fontana
Expert Opinion on Pharmacotherapy 18 (2), 139-149, 2017
182017
Genomics england research consortium. prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for alport …
J Gibson, R Fieldhouse, MMY Chan, O Sadeghi-Alavijeh, L Burnett, V Izzi, ...
J Am Soc Nephrol 32 (9), 2273-2290, 2021
152021
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
O Sadeghi-Alavijeh, MMY Chan, SH Moochhala, JC Ambrose, ...
Kidney International 104 (5), 975-984, 2023
112023
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves
MMY Chan, O Sadeghi-Alavijeh, FM Lopes, AC Hilger, HC Stanescu, ...
Elife 11, e74777, 2022
112022
Crescentic glomerulonephritis with anti-GBM antibody but no glomerular deposition
O Sadeghi-Alavijeh, S Henderson, P Bass, T Cook, K DeGroot, ...
BMC nephrology 19, 1-6, 2018
102018
Implementation of an automated primary care acute kidney injury warning system: a quantitative and qualitative review of 2 years of experience
OS Alavijeh, J Bansal, K Hadfield, C Laing, A Dawnay
Nephron 135 (3), 189-195, 2017
102017
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