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Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH. McAllister B, et al. Among authors: rees e. Nat Neurosci. 2022 Apr;25(4):446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379994 Free PMC article.
De novo mutations in schizophrenia implicate synaptic networks.
Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O'Donovan MC. Fromer M, et al. Among authors: rees e. Nature. 2014 Feb 13;506(7487):179-84. doi: 10.1038/nature12929. Epub 2014 Jan 22. Nature. 2014. PMID: 24463507 Free PMC article.
De novo CNVs in bipolar affective disorder and schizophrenia.
Georgieva L, Rees E, Moran JL, Chambert KD, Milanova V, Craddock N, Purcell S, Sklar P, McCarroll S, Holmans P, O'Donovan MC, Owen MJ, Kirov G. Georgieva L, et al. Among authors: rees e. Hum Mol Genet. 2014 Dec 15;23(24):6677-83. doi: 10.1093/hmg/ddu379. Epub 2014 Jul 23. Hum Mol Genet. 2014. PMID: 25055870 Free PMC article.
Common alleles contribute to schizophrenia in CNV carriers.
Tansey KE, Rees E, Linden DE, Ripke S, Chambert KD, Moran JL, McCarroll SA, Holmans P, Kirov G, Walters J, Owen MJ, O'Donovan MC. Tansey KE, et al. Among authors: rees e. Mol Psychiatry. 2016 Aug;21(8):1085-9. doi: 10.1038/mp.2015.143. Epub 2015 Sep 22. Mol Psychiatry. 2016. PMID: 26390827 Free PMC article.
Exome arrays capture polygenic rare variant contributions to schizophrenia.
Richards AL, Leonenko G, Walters JT, Kavanagh DH, Rees EG, Evans A, Chambert KD, Moran JL, Goldstein J, Neale BM, McCarroll SA, Pocklington AJ, Holmans PA, Owen MJ, O'Donovan MC. Richards AL, et al. Among authors: rees eg. Hum Mol Genet. 2016 Mar 1;25(5):1001-7. doi: 10.1093/hmg/ddv620. Epub 2016 Jan 5. Hum Mol Genet. 2016. PMID: 26740555 Free PMC article.
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium; Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Singh T, et al. Among authors: rees e. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14. Nat Neurosci. 2016. PMID: 26974950 Free PMC article.
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM, Plomin R, Porteous DJ, Wray NR, Caballero A, Geschwind DH, Huckins LM, Ruderfer DM, Santiago E, Sklar P, Stahl EA, Won H, Agerbo E, Als TD, Andreassen OA, Bækvad-Hansen M, Mortensen PB, Pedersen CB, Børglum AD, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen MG, Golimbet V, Grove J, Hougaard DM, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen CS, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T; GERAD1 Consortium; CRESTAR Consortium; Collier DA, Rujescu D, Kirov G, Owen MJ, O'Donovan MC, Walters JTR. Pardiñas AF, et al. Among authors: rees e. Nat Genet. 2018 Mar;50(3):381-389. doi: 10.1038/s41588-018-0059-2. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483656 Free PMC article.
Association of Genetic Liability to Psychotic Experiences With Neuropsychotic Disorders and Traits.
Legge SE, Jones HJ, Kendall KM, Pardiñas AF, Menzies G, Bracher-Smith M, Escott-Price V, Rees E, Davis KAS, Hotopf M, Savage JE, Posthuma D, Holmans P, Kirov G, Owen MJ, O'Donovan MC, Zammit S, Walters JTR. Legge SE, et al. Among authors: rees e. JAMA Psychiatry. 2019 Dec 1;76(12):1256-1265. doi: 10.1001/jamapsychiatry.2019.2508. JAMA Psychiatry. 2019. PMID: 31553412 Free PMC article.
475 results