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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. Shaikh TH, et al. Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10. Genome Res. 2009. PMID: 19592680 Free PMC article.
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS. Elia J, et al. Mol Psychiatry. 2010 Jun;15(6):637-46. doi: 10.1038/mp.2009.57. Epub 2009 Jun 23. Mol Psychiatry. 2010. PMID: 19546859 Free PMC article.
Rare structural variation of synapse and neurotransmission genes in autism.
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Gai X, et al. Mol Psychiatry. 2012 Apr;17(4):402-11. doi: 10.1038/mp.2011.10. Epub 2011 Mar 1. Mol Psychiatry. 2012. PMID: 21358714 Free PMC article.
DNA defects, epigenetics, and gene expression in cancer-adjacent breast: a study from The Cancer Genome Atlas.
Troester MA, Hoadley KA, D'Arcy M, Cherniack AD, Stewart C, Koboldt DC, Robertson AG, Mahurkar S, Shen H, Wilkerson MD, Sandhu R, Johnson NB, Allison KH, Beck AH, Yau C, Bowen J, Sheth M, Hwang ES, Perou CM, Laird PW, Ding L, Benz CC. Troester MA, et al. NPJ Breast Cancer. 2016 May 4;2:16007. doi: 10.1038/npjbcancer.2016.7. eCollection 2016. NPJ Breast Cancer. 2016. PMID: 28721375 Free PMC article.
Rare germline deleterious variants increase susceptibility for lung cancer.
Sang J, Zhang T, Kim J, Li M, Pesatori AC, Consonni D, Song L, Liu J, Zhao W, Hoang PH, Campbell DS, Feng J, D'Arcy ME, Synnott N, Chen Y, Wu Z, Zhu B, Yang XR, Brown KM, Choi J, Shi J, Landi MT. Sang J, et al. Among authors: d arcy me. Hum Mol Genet. 2022 Oct 10;31(20):3558-3565. doi: 10.1093/hmg/ddac123. Hum Mol Genet. 2022. PMID: 35717579 Free PMC article.
59 results