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Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mojarad BA, Engchuan W, Trost B, Backstrom I, Yin Y, Thiruvahindrapuram B, Pallotto L, Mitina A, Khan M, Pellecchia G, Haque B, Guo K, Heung T, Costain G, Scherer SW, Marshall CR, Pearson CE, Bassett AS, Yuen RKC. Mojarad BA, et al. Mol Psychiatry. 2022 Sep;27(9):3692-3698. doi: 10.1038/s41380-022-01575-x. Epub 2022 May 12. Mol Psychiatry. 2022. PMID: 35546631 Free PMC article.
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Reuter MS, et al. Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20. Genet Med. 2019. PMID: 30232381 Free PMC article.
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O'Donovan MC, Owen MJ, Bassett A, Kirov G. Isles AR, et al. PLoS Genet. 2016 May 6;12(5):e1005993. doi: 10.1371/journal.pgen.1005993. eCollection 2016 May. PLoS Genet. 2016. PMID: 27153221 Free PMC article.