Somerville MJ - Search Results

1

Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.

Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Tsiplova K, Sawyer S, Price EM, Lau L, Khan R, Lee W, Huang L, Jarinova O, Ungar WJ, Mendoza-Londono R, Somerville MJ, Boycott KM. Hayeems RZ, et al. Among authors: somerville mj. CMAJ Open. 2022 May 24;10(2):E460-E465. doi: 10.9778/cmajo.20210272. Print 2022 Apr-Jun. CMAJ Open. 2022. PMID: 35609929 Free PMC article.

2

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.

3

Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.

Somerville MJ, Hunter AG, Aubry HL, Korneluk RG, MacKenzie AE, Surh LC. Somerville MJ, et al. Am J Med Genet. 1997 Mar 17;69(2):159-65. Am J Med Genet. 1997. PMID: 9056553

4

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Somerville MJ, et al. N Engl J Med. 2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. N Engl J Med. 2005. PMID: 16236740 Free PMC article.

5

Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.

Whiting EJ, Waring JD, Tamai K, Somerville MJ, Hincke M, Staines WA, Ikeda JE, Korneluk RG. Whiting EJ, et al. Among authors: somerville mj. Hum Mol Genet. 1995 Jun;4(6):1063-72. doi: 10.1093/hmg/4.6.1063. Hum Mol Genet. 1995. PMID: 7655460

6

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.

Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E. Tyson C, et al. Am J Med Genet A. 2005 Dec 15;139(3):173-85. doi: 10.1002/ajmg.a.31015. Am J Med Genet A. 2005. PMID: 16283669

7

Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome.

Tzountzouris J, Kennedy D, Skuterud M, Connolly-Wilson M, Holden JJ, Lin CC, Mak-Tam E, Somerville MJ, Summers AM, Allingham-Hawkins DJ. Tzountzouris J, et al. Among authors: somerville mj. Genet Test. 2000;4(3):235-9. doi: 10.1089/10906570050501434. Genet Test. 2000. PMID: 11142752

8

GDF6, a novel locus for a spectrum of ocular developmental anomalies.

Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. Asai-Coakwell M, et al. Am J Hum Genet. 2007 Feb;80(2):306-15. doi: 10.1086/511280. Epub 2006 Dec 29. Am J Hum Genet. 2007. PMID: 17236135 Free PMC article.

9

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.

Gibson WT, Harvard C, Qiao Y, Somerville MJ, Lewis ME, Rajcan-Separovic E. Gibson WT, et al. Among authors: somerville mj. Am J Med Genet A. 2008 Jan 15;146A(2):225-32. doi: 10.1002/ajmg.a.32056. Am J Med Genet A. 2008. PMID: 18076105

10

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

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