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Page 1
Cosmic kidney disease: an integrated pan-omic, physiological and morphological study into spaceflight-induced renal dysfunction.
Siew K, Nestler KA, Nelson C, D'Ambrosio V, Zhong C, Li Z, Grillo A, Wan ER, Patel V, Overbey E, Kim J, Yun S, Vaughan MB, Cheshire C, Cubitt L, Broni-Tabi J, Al-Jaber MY, Boyko V, Meydan C, Barker P, Arif S, Afsari F, Allen N, Al-Maadheed M, Altinok S, Bah N, Border S, Brown AL, Burling K, Cheng-Campbell M, Colón LM, Degoricija L, Figg N, Finch R, Foox J, Faridi P, French A, Gebre S, Gordon P, Houerbi N, Valipour Kahrood H, Kiffer FC, Klosinska AS, Kubik A, Lee HC, Li Y, Lucarelli N, Marullo AL, Matei I, McCann CM, Mimar S, Naglah A, Nicod J, O'Shaughnessy KM, Oliveira LC, Oswalt L, Patras LI, Lai Polo SH, Rodríguez-Lopez M, Roufosse C, Sadeghi-Alavijeh O, Sanchez-Hodge R, Paul AS, Schittenhelm RB, Schweickart A, Scott RT, Choy Lim Kam Sian TC, da Silveira WA, Slawinski H, Snell D, Sosa J, Saravia-Butler AM, Tabetah M, Tanuwidjaya E, Walker-Samuel S, Yang X, Yasmin, Zhang H, Godovac-Zimmermann J, Sarder P, Sanders LM, Costes SV, Campbell RAA, Karouia F, Mohamed-Alis V, Rodriques S, Lynham S, Steele JR, Baranzini S, Fazelinia H, Dai Z, Uruno A, Shiba D, Yamamoto M, A C Almeida E, Blaber E, Schisler JC, Eisch AJ, Muratani M, Zwart SR, Smith SM, Galazka JM, Mason CE, Beheshti… See abstract for full author list ➔ Siew K, et al. Among authors: sadeghi alavijeh o. Nat Commun. 2024 Jun 11;15(1):4923. doi: 10.1038/s41467-024-49212-1. Nat Commun. 2024. PMID: 38862484 Free PMC article.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: sadeghi alavijeh o. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
Downie ML, Gupta S, Voinescu C, Levine AP, Sadeghi-Alavijeh O, Dufek-Kamperis S, Cao J, Christian M, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Gbadegesin R, Parekh R, Kleta R, Bockenhauer D, Stanescu HC, Gale DP. Downie ML, et al. Among authors: sadeghi alavijeh o. Kidney Int Rep. 2023 May 27;8(8):1562-1574. doi: 10.1016/j.ekir.2023.05.018. eCollection 2023 Aug. Kidney Int Rep. 2023. PMID: 37547536 Free PMC article.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh RS, Diz CB, Bierzynska A, Levine AP, Pepper RJ, Stanescu H, Saleem MA, Kleta R, Bockenhauer D, Koziell AB, Gale DP. Downie ML, et al. Among authors: sadeghi alavijeh o. Pediatr Nephrol. 2023 Jun;38(6):1793-1800. doi: 10.1007/s00467-022-05789-7. Epub 2022 Nov 10. Pediatr Nephrol. 2023. PMID: 36357634 Free PMC article.
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Chan MMY, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG, Zaniew M, Weber S, Ho YM, Connolly JO, Wood D, Maj C, Stuckey A, Kousathanas A; Genomics England Research Consortium; Kleta R, Woolf AS, Bockenhauer D, Levine AP, Gale DP. Chan MMY, et al. Among authors: sadeghi alavijeh o. Elife. 2022 Sep 20;11:e74777. doi: 10.7554/eLife.74777. Elife. 2022. PMID: 36124557 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, Sadeghi-Alavijeh O, Gale DP; Genomics England Research Consortium; Cerkauskaite A, Savige J. Gibson JT, et al. Among authors: sadeghi alavijeh o. Sci Rep. 2022 Feb 17;12(1):2722. doi: 10.1038/s41598-022-06525-9. Sci Rep. 2022. PMID: 35177655 Free PMC article.
24 results