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Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Among authors: mccarroll sa. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Common deletion polymorphisms in the human genome.
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM; International HapMap Consortium. McCarroll SA, et al. Nat Genet. 2006 Jan;38(1):86-92. doi: 10.1038/ng1696. Nat Genet. 2006. PMID: 16468122
Copy number variation: new insights in genome diversity.
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Freeman JL, et al. Among authors: mccarroll sa. Genome Res. 2006 Aug;16(8):949-61. doi: 10.1101/gr.3677206. Epub 2006 Jun 29. Genome Res. 2006. PMID: 16809666 Free article. Review.
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D. Winckler W, et al. Among authors: mccarroll sa. Diabetes. 2007 Mar;56(3):685-93. doi: 10.2337/db06-0202. Diabetes. 2007. PMID: 17327436
On the level: IRGM gene function is all about expression.
Huett A, McCarroll SA, Daly MJ, Xavier RJ. Huett A, et al. Among authors: mccarroll sa. Autophagy. 2009 Jan;5(1):96-9. doi: 10.4161/auto.5.1.7263. Epub 2009 Jan 25. Autophagy. 2009. PMID: 19029815 Free PMC article.
Exploring the variation within.
Macosko EZ, McCarroll SA. Macosko EZ, et al. Among authors: mccarroll sa. Nat Genet. 2012 May 29;44(6):614-6. doi: 10.1038/ng.2311. Nat Genet. 2012. PMID: 22641203
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
Bergen SE, O'Dushlaine CT, Ripke S, Lee PH, Ruderfer DM, Akterin S, Moran JL, Chambert KD, Handsaker RE, Backlund L, Ösby U, McCarroll S, Landen M, Scolnick EM, Magnusson PK, Lichtenstein P, Hultman CM, Purcell SM, Sklar P, Sullivan PF. Bergen SE, et al. Mol Psychiatry. 2012 Sep;17(9):880-6. doi: 10.1038/mp.2012.73. Epub 2012 Jun 12. Mol Psychiatry. 2012. PMID: 22688191 Free PMC article.
zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C; Swedish Schizophrenia Consortium; ARRA Autism Sequencing Consortium; Sklar P, Hultman CM, Purcell S, McCarroll SA, Sullivan PF, Daly MJ, Neale BM. Goldstein JI, et al. Among authors: mccarroll sa. Bioinformatics. 2012 Oct 1;28(19):2543-5. doi: 10.1093/bioinformatics/bts479. Epub 2012 Jul 27. Bioinformatics. 2012. PMID: 22843986 Free PMC article.
284 results