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Page 1
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: shireby g. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison KE, Shaw PJ, Basak AN, Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, Gotkine M, Lerner Y, Zabari M, Vourc'h P, Corcia P, Couratier P, Mora Pardina JS, Salas T, Dion P, Ross JP, Henderson RD, Mathers S, McCombe PA, Needham M, Nicholson G, Rowe DB, Pamphlett R, Mather KA, Sachdev PS, Furlong S, Garton FC, Henders AK, Lin T, Ngo ST, Steyn FJ, Wallace L, Williams KL; BIOS Consortium; Brain MEND Consortium; Neto MM, Cauchi RJ, Blair IP, Kiernan MC, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau GA, Silani V, Landers JE, Shaw CE, Andersen PM, McRae AF, van Es MA, Pasterkamp RJ, Wray NR, McLaughlin RL, Hardiman O, Kenna KP, Tsai E, Runz H, Al-Chalabi A, van den Berg LH, Van Damme P, Mill J, Veldink JH. Hop PJ, et al. Among authors: shireby gl. Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23. Sci Transl Med. 2022. PMID: 35196023 Free PMC article.
Blood-based multivariate methylation risk score for cognitive impairment and dementia.
Koetsier J, Cavill R, Reijnders R, Harvey J, Homann J, Kouhsar M, Deckers K, Köhler S, Eijssen LMT, van den Hove DLA, Demuth I, Düzel S; Alzheimer's Disease Neuroimaging Initiative; Smith RG, Smith AR, Burrage J, Walker EM, Shireby G, Hannon E, Dempster E, Frayling T, Mill J, Dobricic V, Johannsen P, Wittig M, Franke A, Vandenberghe R, Schaeverbeke J, Freund-Levi Y, Frölich L, Scheltens P, Teunissen CE, Frisoni G, Blin O, Richardson JC, Bordet R, Engelborghs S, de Roeck E, Martinez-Lage P, Tainta M, Lleó A, Sala I, Popp J, Peyratout G, Verhey F, Tsolaki M, Andreasson U, Blennow K, Zetterberg H, Streffer J, Vos SJB, Lovestone S, Visser PJ, Lill CM, Bertram L, Lunnon K, Pishva E. Koetsier J, et al. Among authors: shireby g. Alzheimers Dement. 2024 Oct;20(10):6682-6698. doi: 10.1002/alz.14061. Epub 2024 Aug 28. Alzheimers Dement. 2024. PMID: 39193899 Free PMC article.
Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in CD46 and other loci.
Grodstein F, Lemos B, Yang J, de Paiva Lopes K, Vialle RA, Seyfried N, Wang Y, Shireby G, Hannon E, Thomas A, Brookes K, Mill J, De Jager PL, Bennett DA. Grodstein F, et al. Among authors: shireby g. Epigenetics. 2024 Dec;19(1):2392050. doi: 10.1080/15592294.2024.2392050. Epub 2024 Aug 22. Epigenetics. 2024. PMID: 39169872 Free PMC article.
Exome sequencing of UK birth cohorts.
Koko M, Fabian L, Popov I, Eberhardt RY, Zakharov G, Huang QQ, Wade EE, Azad R, Danecek P, Ho K, Hough A, Huang W, Lindsay SJ, Malawsky DS, Bonfanti D, Mason D, Plowman D, Quail MA, Ring SM, Shireby G, Widaa S, Fitzsimons E, Iyer V, Bann D, Timpson NJ, Wright J, Hurles ME, Martin HC. Koko M, et al. Among authors: shireby g. Wellcome Open Res. 2024 Dec 5;9:390. doi: 10.12688/wellcomeopenres.22697.2. eCollection 2024. Wellcome Open Res. 2024. PMID: 39839975 Free PMC article.
Interrogating DNA methylation associated with Lewy body pathology in a cross brain-region and multi-cohort study.
Harvey J, Imm J, Kouhsar M, Smith AR, Creese B, Smith RG, Wheildon G, Chouliaras L, Shireby G, Jaunmuktane Z, De Pablo-Fernández E, Warner T, Lett D, Gveric D, Brooks H, Attems J, Thomas A, Dempster E, Ballard C, O'Brien JT, Aarsland D, Mill J, Pihlstrøm L, Pishva E, Lunnon K. Harvey J, et al. Among authors: shireby g. medRxiv [Preprint]. 2025 Mar 14:2025.03.13.25323837. doi: 10.1101/2025.03.13.25323837. medRxiv. 2025. PMID: 40162278 Free PMC article. Preprint.
Epigenome-wide association study of attention-deficit/hyperactivity disorder in adults.
Rovira P, Sánchez-Mora C, Pagerols M, Richarte V, Corrales M, Fadeuilhe C, Vilar-Ribó L, Arribas L, Shireby G, Hannon E, Mill J, Casas M, Ramos-Quiroga JA, Soler Artigas M, Ribasés M. Rovira P, et al. Among authors: shireby g. Transl Psychiatry. 2020 Jun 19;10(1):199. doi: 10.1038/s41398-020-0860-4. Transl Psychiatry. 2020. PMID: 32561708 Free PMC article.
24 results