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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: mead s. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.
Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J. Sims R, et al. Among authors: mead s. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):764-71. doi: 10.1002/ajmg.b.31216. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812096
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Rückert IM, Wichmann HE, Azazi D, Plagnol V, Pako WH, Whitfield J, Alpers MP, Whittaker J, Balding DJ, Zerr I, Kretzschmar H, Collinge J. Mead S, et al. Hum Mol Genet. 2012 Apr 15;21(8):1897-906. doi: 10.1093/hmg/ddr607. Epub 2011 Dec 30. Hum Mol Genet. 2012. PMID: 22210626 Free PMC article.
The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk.
Hamilton G, Harris SE, Davies G, Liewald DC, Tenesa A, Payton A, Horan MA, Ollier WE, Pendleton N; Genetic and Environmental Risk for Alzheimer's Disease (GERAD1) Consortium; Starr JM, Porteous D, Deary IJ. Hamilton G, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Sep;159B(6):696-709. doi: 10.1002/ajmg.b.32073. Epub 2012 Jun 12. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22693153
A common single-nucleotide variant in T is strongly associated with chordoma.
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM. Pillay N, et al. Among authors: mead s. Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064415
453 results