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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Among authors: mumford ad. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9. Am J Hum Genet. 2023. PMID: 37816352 Free PMC article.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.
PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.
Burley K, Fitzgibbon L, van Heel D; Genes & Health Research Team@EastLondonGenes; Vuckovic D, Mumford AD; Genes & Health Research Team. Burley K, et al. Among authors: mumford ad. Res Pract Thromb Haemost. 2023 May 14;7(4):100175. doi: 10.1016/j.rpth.2023.100175. eCollection 2023 May. Res Pract Thromb Haemost. 2023. PMID: 37538507 Free PMC article.
Outcome monitoring and risk stratification after cardiac procedure in neonates, infants, children and young adults born with congenital heart disease: protocol for a multicentre prospective cohort study (Children OMACp).
Baquedano M, de Jesus SE, Rapetto F, Murphy GJ, Angelini G, Benedetto U, Caldas P, Srivastava PK, Uzun O, Luyt K, Gonzalez Corcia C, Taliotis D, Stoica S, Lawlor DA, Bamber AR, Perry A, Skeffington KL, Omeje I, Pappachan J, Mumford AD, Coward RJM, Kenny D, Caputo M. Baquedano M, et al. Among authors: mumford ad. BMJ Open. 2023 Aug 8;13(8):e071629. doi: 10.1136/bmjopen-2023-071629. BMJ Open. 2023. PMID: 37553192 Free PMC article.
Surgical-PEARL protocol: a multicentre prospective cohort study exploring aetiology, management and outcomes for patients with congenital anomalies potentially requiring surgical intervention.
Mires S, de Jesus SE, Bamber AR, Mumford A, Power B, Bradshaw C, Lawlor D, Gill H, Luyt K, Baquedano M, Overton T, Caputo M, Skerritt C. Mires S, et al. BMJ Open. 2022 Dec 9;12(12):e066480. doi: 10.1136/bmjopen-2022-066480. BMJ Open. 2022. PMID: 36600324 Free PMC article.
Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
RECOVERY Collaborative Group; Horby PW, Peto L, Staplin N, Campbell M, Pessoa-Amorim G, Mafham M, Emberson JR, Stewart R, Prudon B, Uriel A, Green CA, Dhasmana DJ, Malein F, Majumdar J, Collini P, Shurmer J, Yates B, Baillie JK, Buch MH, Day J, Faust SN, Jaki T, Jeffery K, Juszczak E, Knight M, Lim WS, Montgomery A, Mumford A, Rowan K, Thwaites G, Haynes R, Landray MJ. RECOVERY Collaborative Group, et al. Nat Commun. 2024 Jan 31;15(1):924. doi: 10.1038/s41467-023-43644-x. Nat Commun. 2024. PMID: 38296965 Free PMC article. Clinical Trial.
Causal relationships between risk of venous thromboembolism and 18 cancers: a bidirectional Mendelian randomization analysis.
Cornish N, Haycock P, Brenner H, Figueiredo JC, Galesloot TE, Grant RC, Johansson M, Mariosa D, McKay J, Pai R, Pellatt AJ, Samadder NJ, Shi J, Thibord F, Trégouët DA, Voegele C, Thirlwell C, Mumford A, Langdon R; InterLymph Consortium, INVENT-MVP Consortium. Cornish N, et al. Int J Epidemiol. 2024 Feb 1;53(1):dyad170. doi: 10.1093/ije/dyad170. Int J Epidemiol. 2024. PMID: 38124529 Free PMC article.
Spectroscopic and Microscopic Characterization of Microbial Biofouling on Aircraft Fuel Tanks.
Gómez-Bolívar J, Warburton MP, Mumford AD, Mujica-Alarcón JF, Anguilano L, Onwukwe U, Barnes J, Chronopoulou M, Ju-Nam Y, Thornton SF, Rolfe SA, Ojeda JJ. Gómez-Bolívar J, et al. Among authors: mumford ad. Langmuir. 2024 Feb 6;40(7):3429-39. doi: 10.1021/acs.langmuir.3c02803. Online ahead of print. Langmuir. 2024. PMID: 38319653 Free PMC article.
Microbial responses to elevated temperature: Evaluating bentonite mineralogy and copper canister corrosion within the long-term stability of deep geological repositories of nuclear waste.
Martinez-Moreno MF, Povedano-Priego C, Mumford AD, Morales-Hidalgo M, Mijnendonckx K, Jroundi F, Ojeda JJ, Merroun ML. Martinez-Moreno MF, et al. Among authors: mumford ad. Sci Total Environ. 2024 Mar 10;915:170149. doi: 10.1016/j.scitotenv.2024.170149. Epub 2024 Jan 17. Sci Total Environ. 2024. PMID: 38242445 Free 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: mumford ad. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
126 results