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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?
Green EK, Grozeva D, Raybould R, Elvidge G, Macgregor S, Craig I, Farmer A, McGuffin P, Forty L, Jones L, Jones I, O'Donovan MC, Owen MJ, Kirov G, Craddock N. Green EK, et al. Among authors: grozeva d. Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1063-9. doi: 10.1002/ajmg.b.30931. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19160446
Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
Green EK, Grozeva D, Moskvina V, Hamshere ML, Jones IR, Jones L, Forty L, Caesar S, Gordon-Smith K, Fraser C, Russell E, St Clair D, Young AH, Ferrier N, Farmer A, McGuffin P, Holmans PA, Owen MJ, O'Donovan MC, Craddock N. Green EK, et al. Among authors: grozeva d. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1347-9. doi: 10.1002/ajmg.b.31108. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20583128
DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls.
Green EK, Grozeva D, Sims R, Raybould R, Forty L, Gordon-Smith K, Russell E, St Clair D, Young AH, Ferrier IN, Kirov G, Jones I, Jones L, Owen MJ, O'Donovan MC, Craddock N. Green EK, et al. Among authors: grozeva d. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):490-2. doi: 10.1002/ajmg.b.31187. Epub 2011 Mar 28. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21445958
Polygenic dissection of the bipolar phenotype.
Hamshere ML, O'Donovan MC, Jones IR, Jones L, Kirov G, Green EK, Moskvina V, Grozeva D, Bass N, McQuillin A, Gurling H, St Clair D, Young AH, Ferrier IN, Farmer A, McGuffin P, Sklar P, Purcell S, Holmans PA, Owen MJ, Craddock N. Hamshere ML, et al. Among authors: grozeva d. Br J Psychiatry. 2011 Apr;198(4):284-8. doi: 10.1192/bjp.bp.110.087866. Br J Psychiatry. 2011. PMID: 21972277 Free PMC article.
Seven newly identified loci for autoimmune thyroid disease.
Cooper JD, Simmonds MJ, Walker NM, Burren O, Brand OJ, Guo H, Wallace C, Stevens H, Coleman G; Wellcome Trust Case Control Consortium; Franklyn JA, Todd JA, Gough SC. Cooper JD, et al. Hum Mol Genet. 2012 Dec 1;21(23):5202-8. doi: 10.1093/hmg/dds357. Epub 2012 Aug 24. Hum Mol Genet. 2012. PMID: 22922229 Free PMC article.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
129 results