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Page 1
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Van Den Bossche MJ, Johnstone M, Strazisar M, Pickard BS, Goossens D, Lenaerts AS, De Zutter S, Nordin A, Norrback KF, Mendlewicz J, Souery D, De Rijk P, Sabbe BG, Adolfsson R, Blackwood D, Del-Favero J. Van Den Bossche MJ, et al. Among authors: johnstone m. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):812-22. doi: 10.1002/ajmg.b.32088. Epub 2012 Aug 22. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22911887
A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.
Derks EM, Ayub M, Chambert K, Del Favero J, Johnstone M, MacGregor S, Maclean A, McKechanie AG, McRae AF, Moran JL, Pickard BS, Purcell S, Sklar P, StClair DM, Wray NR, Visscher PM, Blackwood DH. Derks EM, et al. Among authors: johnstone m. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):847-54. doi: 10.1002/ajmg.b.32189. Epub 2013 Sep 25. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 24115684
Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness.
Johnstone M, Maclean A, Heyrman L, Lenaerts AS, Nordin A, Nilsson LG, De Rijk P, Goossens D, Adolfsson R, St Clair DM, Hall J, Lawrie SM, McIntosh AM, Del-Favero J, Blackwood DH, Pickard BS. Johnstone M, et al. Mol Neuropsychiatry. 2015 Oct;1(3):175-190. doi: 10.1159/000438788. Epub 2015 Oct 7. Mol Neuropsychiatry. 2015. PMID: 27239468 Free PMC article.
Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.
Pickard BS, Van Den Bossche MJ, Malloy MP, Johnstone M, Lenaerts AS, Nordin A, Goossens D, St Clair D, Muir WJ, Nilsson LG, Sabbe B, Adolfsson R, Blackwood DH, Del-Favero J. Pickard BS, et al. Among authors: johnstone m. Psychiatr Genet. 2012 Oct;22(5):269-70. doi: 10.1097/YPG.0b013e32835185b3. Psychiatr Genet. 2012. PMID: 22392056 No abstract available.
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: johnstone m. 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.
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.
Singh T, Walters JTR, Johnstone M, Curtis D, Suvisaari J, Torniainen M, Rees E, Iyegbe C, Blackwood D, McIntosh AM, Kirov G, Geschwind D, Murray RM, Di Forti M, Bramon E, Gandal M, Hultman CM, Sklar P; INTERVAL Study; UK10K Consortium; Palotie A, Sullivan PF, O'Donovan MC, Owen MJ, Barrett JC. Singh T, et al. Among authors: johnstone m. Nat Genet. 2017 Aug;49(8):1167-1173. doi: 10.1038/ng.3903. Epub 2017 Jun 26. Nat Genet. 2017. PMID: 28650482 Free PMC article.
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, Strange A, Freeman C, Thiselton DL, Elves RL, Regan R, Ennis S, Dinan TG, McDonald C, Murphy KC, O'Callaghan E, Waddington JL, Walsh D, O'Donovan M, Grozeva D, Craddock N, Stone J, Scolnick E, Purcell S, Sklar P, Coe B, Eichler EE, Ophoff R, Buizer J, Szatkiewicz J, Hultman C, Sullivan P, Gurling H, Mcquillin A, St Clair D, Rees E, Kirov G, Walters J, Blackwood D, Johnstone M, Donohoe G; International Schizophrenia Consortium, SGENE+ Consortium; O'Neill FA; Wellcome Trust Case Control Consortium 2; Kendler KS, Gill M, Riley BP, Spencer CC, Corvin A. Morris DW, et al. Among authors: johnstone m. Hum Mol Genet. 2014 Jun 15;23(12):3316-26. doi: 10.1093/hmg/ddu025. Epub 2014 Jan 28. Hum Mol Genet. 2014. PMID: 24474471 Free PMC article.
Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank.
Barbu MC, Zeng Y, Shen X, Cox SR, Clarke TK, Gibson J, Adams MJ, Johnstone M, Haley CS, Lawrie SM, Deary IJ; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team; McIntosh AM, Whalley HC. Barbu MC, et al. Among authors: johnstone m. Biol Psychiatry Cogn Neurosci Neuroimaging. 2019 Jan;4(1):91-100. doi: 10.1016/j.bpsc.2018.07.006. Epub 2018 Jul 31. Biol Psychiatry Cogn Neurosci Neuroimaging. 2019. PMID: 30197049 Free PMC article.
DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness.
Malavasi ELV, Economides KD, Grünewald E, Makedonopoulou P, Gautier P, Mackie S, Murphy LC, Murdoch H, Crummie D, Ogawa F, McCartney DL, O'Sullivan ST, Burr K, Torrance HS, Phillips J, Bonneau M, Anderson SM, Perry P, Pearson M, Constantinides C, Davidson-Smith H, Kabiri M, Duff B, Johnstone M, Polites HG, Lawrie SM, Blackwood DH, Semple CA, Evans KL, Didier M, Chandran S, McIntosh AM, Price DJ, Houslay MD, Porteous DJ, Millar JK. Malavasi ELV, et al. Among authors: johnstone m. Transl Psychiatry. 2018 Sep 6;8(1):184. doi: 10.1038/s41398-018-0228-1. Transl Psychiatry. 2018. PMID: 30190480 Free PMC article.
Effects of a mis-sense DISC1 variant on brain activation in two cohorts at high risk of bipolar disorder or schizophrenia.
Whalley HC, Sussmann JE, Johnstone M, Romaniuk L, Redpath H, Chakirova G, Mukherjee P, Hall J, Johnstone EC, Lawrie SM, McIntosh AM. Whalley HC, et al. Among authors: johnstone m, johnstone ec. Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):343-53. doi: 10.1002/ajmg.b.32035. Epub 2012 Feb 15. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22337479
553 results