Somerville M - Search Results

1

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. Among authors: somerville m. 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.

2

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.

3

Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.

McDaniel LD, Tomkins DJ, Stanbridge EJ, Somerville MJ, Friedberg EC, Schultz RA. McDaniel LD, et al. Am J Hum Genet. 2005 Jul;77(1):132-9. doi: 10.1086/431328. Epub 2005 May 10. Am J Hum Genet. 2005. PMID: 15887093 Free PMC article.

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

A centralized approach to out-of-province genetic testing leads to cost savings: the Alberta experience.

Lilley M, Christian S, Blumenschein P, Chan S, Somerville M. Lilley M, et al. Among authors: somerville m. Clin Genet. 2013 Oct;84(4):373-7. doi: 10.1111/cge.12077. Epub 2013 Jan 4. Clin Genet. 2013. PMID: 23252955

6

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

7

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

8

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. Among authors: somerville m. 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

9

Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.

Leonard NJ, Krol AL, Bleoo S, Somerville MJ. Leonard NJ, et al. Among authors: somerville mj. J Med Genet. 2005 Jan;42(1):e2. doi: 10.1136/jmg.2003.017376. J Med Genet. 2005. PMID: 15635064 Free PMC article. No abstract available.

10

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

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