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Page 1
Global variation in copy number in the human genome.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Redon R, et al. Among authors: somerville mj. Nature. 2006 Nov 23;444(7118):444-54. doi: 10.1038/nature05329. Nature. 2006. PMID: 17122850 Free PMC article.
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ. Christiansen J, et al. Among authors: somerville mj. Circ Res. 2004 Jun 11;94(11):1429-35. doi: 10.1161/01.RES.0000130528.72330.5c. Epub 2004 Apr 29. Circ Res. 2004. PMID: 15117819
Microduplication and triplication of 22q11.2: a highly variable syndrome.
Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Yobb TM, et al. Among authors: somerville mj. Am J Hum Genet. 2005 May;76(5):865-76. doi: 10.1086/429841. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800846 Free PMC article.
Defining the role of laboratory genetic counselor.
Christian S, Lilley M, Hume S, Scott P, Somerville M. Christian S, et al. J Genet Couns. 2012 Aug;21(4):605-11. doi: 10.1007/s10897-011-9419-0. Epub 2011 Nov 11. J Genet Couns. 2012. PMID: 22075756
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Lilley M, Christian S, Hume S, Scott P, Montgomery M, Semple L, Zuberbuhler P, Tabak J, Bamforth F, Somerville MJ. Lilley M, et al. Among authors: somerville mj. Paediatr Child Health. 2010 Nov;15(9):590-4. doi: 10.1093/pch/15.9.590. Paediatr Child Health. 2010. PMID: 22043142 Free PMC article.
Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.
Scott P, Podemski L, Baptista Wyatt K, Walker C, Haase SM, Elyas BG, Sprysak KA, Lilley M, Christian S, Hicks M, Somerville MJ, Hume SL. Scott P, et al. Among authors: somerville mj. Genet Test Mol Biomarkers. 2012 Aug;16(8):943-7. doi: 10.1089/gtmb.2012.0026. Epub 2012 Jun 29. Genet Test Mol Biomarkers. 2012. PMID: 22747196
53 results