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Page 1
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Among authors: elliott ks. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
Genetic variation in PARL influences mitochondrial content.
Curran JE, Jowett JB, Abraham LJ, Diepeveen LA, Elliott KS, Dyer TD, Kerr-Bayles LJ, Johnson MP, Comuzzie AG, Moses EK, Walder KR, Collier GR, Blangero J, Kissebah AH. Curran JE, et al. Among authors: elliott ks. Hum Genet. 2010 Feb;127(2):183-90. doi: 10.1007/s00439-009-0756-0. Epub 2009 Oct 28. Hum Genet. 2010. PMID: 19862556 Free PMC article.
Distinct HLA associations of LGI1 and CASPR2-antibody diseases.
Binks S, Varley J, Lee W, Makuch M, Elliott K, Gelfand JM, Jacob S, Leite MI, Maddison P, Chen M, Geschwind MD, Grant E, Sen A, Waters P, McCormack M, Cavalleri GL, Barnardo M, Knight JC, Irani SR. Binks S, et al. Brain. 2018 Aug 1;141(8):2263-2271. doi: 10.1093/brain/awy109. Brain. 2018. PMID: 29788256 Free PMC article.
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
arcOGEN Consortium; arcOGEN Collaborators; Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hoffman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonnson H, Kerkhof HJ, Kloppenburg M, Bos SD, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EV, Ratnayake M, Ricketts M, Beazley C, Blackburn H, Bumpstead S, Elliott KS, Hunt SE, Potter SC, Shin SY, Yadav VK, Zhai G, Sherburn K, Dixon K, Arden E, Aslam N, Battley PK, Carluke I, Doherty S, Gordon A, Joseph J, Keen R, Koller NC, Mitchell S, O'Neill F, Paling E, Reed MR, Rivadeneira F, Swift D, Walker K, Watkins B, Wheeler M, Birrell F, Ioannidis JP, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Stykarsdottir U, Uitterlinden AG, van Meurs JB, Chapman K, Deloukas P, Ollier WE, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Willkinson JM, Ralston SH, Valdes AM, Spector TD, Loughlin J. arcOGEN Consortium, et al. Among authors: elliott ks. Lancet. 2012 Sep 1;380(9844):815-23. doi: 10.1016/S0140-6736(12)60681-3. Epub 2012 Jul 3. Lancet. 2012. PMID: 22763110 Free PMC article.
Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.
Panoutsopoulou K, Southam L, Elliott KS, Wrayner N, Zhai G, Beazley C, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Arden E, Battley K, Blackburn H, Blanco FJ, Bumpstead S, Cupples LA, Day-Williams AG, Dixon K, Doherty SA, Esko T, Evangelou E, Felson D, Gomez-Reino JJ, Gonzalez A, Gordon A, Gwilliam R, Halldorsson BV, Hauksson VB, Hofman A, Hunt SE, Ioannidis JP, Ingvarsson T, Jonsdottir I, Jonsson H, Keen R, Kerkhof HJ, Kloppenburg MG, Koller N, Lakenberg N, Lane NE, Lee AT, Metspalu A, Meulenbelt I, Nevitt MC, O'Neill F, Parimi N, Potter SC, Rego-Perez I, Riancho JA, Sherburn K, Slagboom PE, Stefansson K, Styrkarsdottir U, Sumillera M, Swift D, Thorsteinsdottir U, Tsezou A, Uitterlinden AG, van Meurs JB, Watkins B, Wheeler M, Mitchell S, Zhu Y, Zmuda JM; arcOGEN Consortium; Zeggini E, Loughlin J. Panoutsopoulou K, et al. Among authors: elliott ks. Ann Rheum Dis. 2011 May;70(5):864-7. doi: 10.1136/ard.2010.141473. Epub 2010 Dec 21. Ann Rheum Dis. 2011. PMID: 21177295 Free PMC article.
Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus.
Parks T, Elliott K, Lamagni T, Auckland K, Mentzer AJ, Guy R, Cartledge D, Strakova L, Connor DO, Pollard AJ, Neville MJ, Mahajan A, Ashrafian H, Chapman SJ, Hill AVS, Sriskandan S, Knight JC. Parks T, et al. Genes Immun. 2020 Jan;21(1):63-70. doi: 10.1038/s41435-019-0082-z. Epub 2019 Aug 29. Genes Immun. 2020. PMID: 31462703 Free PMC article.
Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro.
Wilson SG, Jones MR, Mullin BH, Dick IM, Richards JB, Pastinen TM, Grundberg E, Ljunggren O, Surdulescu GL, Dudbridge F, Elliott KS, Cervino AC, Spector TD, Prince RL. Wilson SG, et al. Among authors: elliott ks. J Bone Miner Res. 2009 Dec;24(12):1989-97. doi: 10.1359/jbmr.090530. J Bone Miner Res. 2009. PMID: 19453265 Free article.
Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts.
Binks SNM, Elliott KS, Muñiz-Castrillo S, Gilbert E, Kawasaki de Araujo T, Harper AR, Brown AC, Chong AY, Band G, Peris Sempere V, Pinto AL, Costantino F, Rayner NW, Mentzer AJ, Delanty N, Rogemond V, Picard G, Handel AE, Melzer N, Titulaer MJ, Lee ST, Leypoldt F, Kuhlenbaeumer G, Honnorat J, Mignot E, Cavelleri GL, Knight JC, Irani SR. Binks SNM, et al. Among authors: elliott ks. Brain. 2024 Oct 26:awae349. doi: 10.1093/brain/awae349. Online ahead of print. Brain. 2024. PMID: 39454566
98 results