Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions

Authors: Ungar, Wendy J., Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, James Stavropoulos, D., Huang, Lijia, Jarinova, Olga, Wu, Vercancy, Tsiplova, Kate, Lau, Lynnette, Lee, Whiwon, Venkataramanan, Viji, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin J., Boycott, Kym M.

Source: Clinical therapeutics. 45(8):702-709

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196370191.0x000001&indx=1&recIds=ETOCvdc_100196370191.0x000001

Report of an International Survey of Molecular Genetic Testing Laboratories

Authors: McGovern, Margaret M., Elles, Rob, Beretta, Isabella, Somerville, Martin J., Hoefler, Gerald, Keinanen, Mauri, Barton, David, Carson, Nancy, Dequeker, Elisabeth, Brdicka, Radim, Blazkova, Alena, Aymé, Ségolène, Schnieders, Birgit, Müller, Clemens R., Dalen, Vibeke, Martinez, Armando Albert, Kristoffersson, Ulf, Ozguc, Meral, Mueller, Hansjakob, Boone, Joe, Lubin, Ira M., Sequeiros, Jorge, Taruscio, Domenica, Williamson, Bob, Mainland, Lynn, Yoshikura, Hiroshi, Ronchi, Elettra

Source: Community Genetics, 2007 Jan 01. 10(3), 123-131.

Access URL: https://www.jstor.org/stable/26679580

Severe Expressive-Language Delay Related to Duplication of the Williams-Beuren Locus.

Authors: Somerville, Martin J., Mervis, Carolyn B., Young, Edwin J.

Source: New England Journal of Medicine; October 20 2005, Vol. 353 Issue 16, p1694-1701, 8p

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome.

Authors: Yobb, Twila M., Somerville, Martin J., Willatt, Lionel

Source: American Journal of Human Genetics; May 2005, Vol. 76 Issue 5, p865-876, 12p

An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis.

Alternate Title: letter to the editor

Authors: Somerville, Martin J., Sprysak, Kathleen A., Hicks, Mark

Source: American Journal of Human Genetics; September 1999, Vol. 65 Issue 3, p924-926, 3p

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Regulation of Genetic Testing/Service in Canada.

Authors: Somerville, Martin J., Allingham-Hawkins, Diane J.

Source: Quality Issues in Clinical Genetic Services; 2010, p83-90, 8p

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Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells

Authors: McDaniel, Lisa D., Tomkins, Darrell J., Stanbridge, Eric J., Somerville, Martin J., Friedberg, Errol C., Schultz, Roger A.

Source: In The American Journal of Human Genetics 2005 77(1):132-139

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Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease.

Authors: Christiansen, Jesse, Dyck, John D., Elyas, Basil G., Lilley, Margaret, Bamforth, J. Stephen, Hicks, Mark, Sprysak, Kathleen A., Tomaszewski, Robert, Haase, Shelagh M., Vicen-Wyhony, Leanne M., Somerville, Martin J.

Source: Circulation Research; 6/11/2004, Vol. 94 Issue 11, p1429-1435, 7p

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

Authors: Whiting, Elisabeth J., Waring, James D., Tamai, Katsuyuki, Somerville, Martin J., Hincke, Maxwell, Staines, William A., Ikeda, Joh-E, Korneluk, Robert G.

Source: Human Molecular Genetics; Jun1995, Vol. 4 Issue 6, p1063-1072, 10p

Neurofilament Light and Polyadenylated mRNA Levels Are Decreased in Amyotrophic Lateral Sclerosis Motor Neurons.

Authors: BERGERON, CATHERINE, BERIC-MASKAREL, KARMENSITA, MUNTASSER, SIHAM, WEYER, LUITGARD, SOMERVILLE, MARTIN J., PERCY, MAIRE E.

Source: Journal of Neuropathology & Experimental Neurology; May1994, Vol. 53 Issue 3, p221-230, 10p

Localization of the 68 000-Da human neurofilament gene (NF68) using a murine cDNA probe.

Authors: Somerville, Martin J., McLachlan, Donald R., Percy, Maire E.

Source: Genome; August 1988, Vol. 30, p499-500, 2p

Integration of combined heteroduplexrestriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis

Authors: Footz, Tim, Somerville, Martin J., Tomaszewski, Robert, Elyas, Basil, Backhouse, Christopher J.

Source: Analyst; 2004, Vol. 129 Issue: 1 p25-31, 7p

Heteroduplex-Based Genotyping with Microchip Electrophoresis and dHPLC

Authors: Footz, Tim, Somerville, Martin J., Tomaszewski, Robert, Sprysak, Kathleen A., Backhouse, Christopher J.

Source: Genetic Testing; December 01, 2003, Vol. 7 Issue: 4 p283-293, 11p