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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 M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: garton fc. 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.
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Garton FC, Benyamin B, Zhao Q, Liu Z, Gratten J, Henders AK, Zhang ZH, Edson J, Furlong S, Morgan S, Heggie S, Thorpe K, Pfluger C, Mather KA, Sachdev PS, McRae AF, Robinson MR, Shah S, Visscher PM, Mangelsdorf M, Henderson RD, Wray NR, McCombe PA. Garton FC, et al. Mol Genet Genomic Med. 2017 Jun 12;5(4):418-428. doi: 10.1002/mgg3.302. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717666 Free PMC article.
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Benyamin B, He J, Zhao Q, Gratten J, Garton F, Leo PJ, Liu Z, Mangelsdorf M, Al-Chalabi A, Anderson L, Butler TJ, Chen L, Chen XD, Cremin K, Deng HW, Devine M, Edson J, Fifita JA, Furlong S, Han YY, Harris J, Henders AK, Jeffree RL, Jin ZB, Li Z, Li T, Li M, Lin Y, Liu X, Marshall M, McCann EP, Mowry BJ, Ngo ST, Pamphlett R, Ran S, Reutens DC, Rowe DB, Sachdev P, Shah S, Song S, Tan LJ, Tang L, van den Berg LH, van Rheenen W, Veldink JH, Wallace RH, Wheeler L, Williams KL, Wu J, Wu X, Yang J, Yue W, Zhang ZH, Zhang D, Noakes PG, Blair IP, Henderson RD, McCombe PA, Visscher PM, Xu H, Bartlett PF, Brown MA, Wray NR, Fan D. Benyamin B, et al. Nat Commun. 2017 Sep 20;8(1):611. doi: 10.1038/s41467-017-00471-1. Nat Commun. 2017. PMID: 28931804 Free PMC article.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D. Gratten J, et al. Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0. Genome Med. 2017. PMID: 29149916 Free PMC article.
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.
Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, Thalamuthu A, Mangino M, Liu J, Demirkan A, Lek M, Xu L, Wang G, Oldmeadow C, Gaulton KJ, Lotta LA, Miyamoto-Mikami E, Rivas MA, White T, Loh PR, Aadahl M, Amin N, Attia JR, Austin K, Benyamin B, Brage S, Cheng YC, Cięszczyk P, Derave W, Eriksson KF, Eynon N, Linneberg A, Lucia A, Massidda M, Mitchell BD, Miyachi M, Murakami H, Padmanabhan S, Pandey A, Papadimitriou I, Rajpal DK, Sale C, Schnurr TM, Sessa F, Shrine N, Tobin MD, Varley I, Wain LV, Wray NR, Lindgren CM, MacArthur DG, Waterworth DM, McCarthy MI, Pedersen O, Khaw KT, Kiel DP; GEFOS Any-Type of Fracture Consortium; Pitsiladis Y, Fuku N, Franks PW, North KN, van Duijn CM, Mather KA, Hansen T, Hansson O, Spector T, Murabito JM, Richards JB, Rivadeneira F, Langenberg C, Perry JRB, Wareham NJ, Scott RA. Willems SM, et al. Among authors: garton fc. Nat Commun. 2017 Jul 12;8:16015. doi: 10.1038/ncomms16015. Nat Commun. 2017. PMID: 29313844 Free PMC article.
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis.
Nabais MF, Lin T, Benyamin B, Williams KL, Garton FC, Vinkhuyzen AAE, Zhang F, Vallerga CL, Restuadi R, Freydenzon A, Zwamborn RAJ, Hop PJ, Robinson MR, Gratten J, Visscher PM, Hannon E, Mill J, Brown MA, Laing NG, Mather KA, Sachdev PS, Ngo ST, Steyn FJ, Wallace L, Henders AK, Needham M, Veldink JH, Mathers S, Nicholson G, Rowe DB, Henderson RD, McCombe PA, Pamphlett R, Yang J, Blair IP, McRae AF, Wray NR. Nabais MF, et al. Among authors: garton fc. NPJ Genom Med. 2020 Feb 27;5:10. doi: 10.1038/s41525-020-0118-3. eCollection 2020. NPJ Genom Med. 2020. PMID: 32140259 Free PMC article.
40 results