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Page 1
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.
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ. Kirov G, et al. Among authors: rees e. Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15. Mol Psychiatry. 2012. PMID: 22083728 Free PMC article.
De novo mutation in schizophrenia.
Rees E, Kirov G, O'Donovan MC, Owen MJ. Rees E, et al. Schizophr Bull. 2012 May;38(3):377-81. doi: 10.1093/schbul/sbs047. Epub 2012 Mar 26. Schizophr Bull. 2012. PMID: 22451492 Free PMC article.
Implication of a rare deletion at distal 16p11.2 in schizophrenia.
Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2. Guha S, et al. Among authors: rees e. JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71. JAMA Psychiatry. 2013. PMID: 23325106 Free PMC article.
The penetrance of copy number variations for schizophrenia and developmental delay.
Kirov G, Rees E, Walters JT, Escott-Price V, Georgieva L, Richards AL, Chambert KD, Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ. Kirov G, et al. Among authors: rees e. Biol Psychiatry. 2014 Mar 1;75(5):378-85. doi: 10.1016/j.biopsych.2013.07.022. Epub 2013 Aug 28. Biol Psychiatry. 2014. PMID: 23992924 Free PMC article.
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.
Rees E, Walters JT, Chambert KD, O'Dushlaine C, Szatkiewicz J, Richards AL, Georgieva L, Mahoney-Davies G, Legge SE, Moran JL, Genovese G, Levinson D, Morris DW, Cormican P, Kendler KS, O'Neill FA, Riley B, Gill M, Corvin A; Wellcome Trust Case Control Consortium; Sklar P, Hultman C, Pato C, Pato M, Sullivan PF, Gejman PV, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G. Rees E, et al. Hum Mol Genet. 2014 Mar 15;23(6):1669-76. doi: 10.1093/hmg/ddt540. Epub 2013 Oct 26. Hum Mol Genet. 2014. PMID: 24163246 Free PMC article.
Evidence that duplications of 22q11.2 protect against schizophrenia.
Rees E, Kirov G, Sanders A, Walters JT, Chambert KD, Shi J, Szatkiewicz J, O'Dushlaine C, Richards AL, Green EK, Jones I, Davies G, Legge SE, Moran JL, Pato C, Pato M, Genovese G, Levinson D, Duan J, Moy W, Göring HH, Morris D, Cormican P, Kendler KS, O'Neill FA, Riley B, Gill M, Corvin A; Wellcome Trust Case Control Consortium; Craddock N, Sklar P, Hultman C, Sullivan PF, Gejman PV, McCarroll SA, O'Donovan MC, Owen MJ. Rees E, et al. Mol Psychiatry. 2014 Jan;19(1):37-40. doi: 10.1038/mp.2013.156. Epub 2013 Nov 12. Mol Psychiatry. 2014. PMID: 24217254 Free PMC article.
Analysis of copy number variations at 15 schizophrenia-associated loci.
Rees E, Walters JT, Georgieva L, Isles AR, Chambert KD, Richards AL, Mahoney-Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G. Rees E, et al. Br J Psychiatry. 2014 Feb;204(2):108-14. doi: 10.1192/bjp.bp.113.131052. Epub 2013 Dec 5. Br J Psychiatry. 2014. PMID: 24311552 Free PMC article.
488 results