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A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
Genomic screen and follow-up analysis for autistic disorder.
Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA, Bass MP, McClain C, von Wendt L, Vance JM, Abramson RH, Wright HH, Ashley-Koch A, Gilbert JR, DeLong RG, Cuccaro ML, Pericak-Vance MA. Shao Y, et al. Am J Med Genet. 2002 Jan 8;114(1):99-105. doi: 10.1002/ajmg.10153. Am J Med Genet. 2002. PMID: 11840513
An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.
Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM, Delong GR, Abramson RK, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA. Ashley-Koch AE, et al. Ann Hum Genet. 2006 May;70(Pt 3):281-92. doi: 10.1111/j.1469-1809.2006.00253.x. Ann Hum Genet. 2006. PMID: 16674551
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
Carnes MU, Liu YP, Allingham RR, Whigham BT, Havens S, Garrett ME, Qiao C; NEIGHBORHOOD Consortium Investigators; Katsanis N, Wiggs JL, Pasquale LR, Ashley-Koch A, Oh EC, Hauser MA. Carnes MU, et al. PLoS Genet. 2014 May 29;10(5):e1004372. doi: 10.1371/journal.pgen.1004372. eCollection 2014. PLoS Genet. 2014. PMID: 24875647 Free PMC article.
272 results