The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
Villani, Anita, Davidson, Scott, Kanwar, Nisha, Lo, Winnie W, Li, Yisu, Cohen-Gogo, Sarah, Fuligni, Fabio, Edward, Lisa-Monique, Light, Nicholas, Layeghifard, Mehdi, Harripaul, Ricardo, Waldman, Larissa, Gallinger, Bailey, Comitani, Federico, Brunga, Ledia, Hayes, Reid, Anderson, Nathaniel D, Ramani, Arun K, Yuki, Kyoko E, Blay, Sasha, Johnstone, Brittney, Inglese, Cara, Hammad, Rawan, Goudie, Catherine, Shuen, Andrew, Wasserman, Jonathan D, Venier, Rosemarie E, Eliou, Marianne, Lorenti, Miranda, Ryan, Carol Ann, Braga, Michael, Gloven-Brown, Meagan, Han, Jianan, Montero, Maria, Spatare, Famida, Whitlock, James A, Scherer, Stephen W, Chun, Kathy, Somerville, Martin J, Hawkins, Cynthia, Abdelhaleem, Mohamed, Ramaswamy, Vijay, Somers, Gino R, Kyriakopoulou, Lianna, Hitzler, Johann, Shago, Mary, Morgenstern, Daniel A, Tabori, Uri, Meyn, Stephen, Irwin, Meredith S, Malkin, David, Shlien, Adam
Published in Nature cancer (01.02.2023)
Published in Nature cancer (01.02.2023)
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Risk Factors for Development of Dementia in a Unique Six-Year Cohort Study. I. An Exploratory, Pilot Study of Involvement of the E4 Allele of Apolipoprotein E, Mutations of the Hemochromatosis-HFE Gene, Type 2 Diabetes, and Stroke
Percy, Maire, Somerville, Martin J., Hicks, Mark, Colelli, Teresa, Wright, Emily, Kitaygorodsky, Julia, Jiang, Amy, Ho, Valerie, Parpia, Alyssa, Wong, Michael K., Garcia, Angeles
Published in Journal of Alzheimer's disease (01.01.2014)
Published in Journal of Alzheimer's disease (01.01.2014)
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Journal Article
Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome
Yobb, Twila M., Somerville, Martin J., Willatt, Lionel, Firth, Helen V., Harrison, Karen, MacKenzie, Jennifer, Gallo, Natasha, Morrow, Bernice E., Shaffer, Lisa G., Babcock, Melanie, Chernos, Judy, Bernier, Francois, Sprysak, Kathy, Christiansen, Jesse, Haase, Shelagh, Elyas, Basil, Lilley, Margaret, Bamforth, Steven, McDermid, Heather E.
Published in American journal of human genetics (01.05.2005)
Published in American journal of human genetics (01.05.2005)
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Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions
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.
Published in Clinical therapeutics (01.08.2023)
Published in Clinical therapeutics (01.08.2023)
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Journal Article
Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
Gibson, William T., Harvard, Chansonette, Qiao, Ying, Somerville, Martin J., Lewis, M.E. Suzanne, Rajcan‐Separovic, Evica
Published in American journal of medical genetics. Part A (15.01.2008)
Published in American journal of medical genetics. Part A (15.01.2008)
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Journal Article
Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
Somerville, Martin J, Mervis, Carolyn B, Young, Edwin J, Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A, Morris, Colleen A, Scherer, Stephen W, Osborne, Lucy R
Published in The New England journal of medicine (20.10.2005)
Published in The New England journal of medicine (20.10.2005)
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Journal Article
Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells
McDaniel, Lisa D., Tomkins, Darrell J., Stanbridge, Eric J., Somerville, Martin J., Friedberg, Errol C., Schultz, Roger A.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Journal Article
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
Hayeems, Robin Z, Marshall, Christian R, Gillespie, Meredith K, Szuto, Anna, Chisholm, Caitlin, Stavropoulos, Dimitri J, Venkataramanan, Viji, Tsiplova, Kate, Sawyer, Sarah, Price, E Magda, Lau, Lynette, Khan, Reem, Lee, Whiwon, Huang, Lijia, Jarinova, Olga, Ungar, Wendy J, Mendoza-Londono, Roberto, Somerville, Martin J, Boycott, Kym M
Published in CMAJ open (01.04.2022)
Published in CMAJ open (01.04.2022)
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Journal Article
Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease
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
Published in Circulation research (11.06.2004)
Published in Circulation research (11.06.2004)
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A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple Café-au-Lait spots
WHITESIDE, Darcy, MCLEOD, Ross, GRAHAM, Gail, STECKLEY, Jamie L, BOOTH, Karen, SOMERVILLE, Martin J, ANDREW, Susan E
Published in Cancer research (Chicago, Ill.) (15.01.2002)
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Published in Cancer research (Chicago, Ill.) (15.01.2002)
Journal Article
Newborn screening for cystic fibrosis in Alberta: Two years of experience
Lilley, Margaret, Christian, Susan, Hume, Stacey, Scott, Patrick, Montgomery, Mark, Semple, Lisa, Zuberbuhler, Peter, Tabak, Joan, Bamforth, Fiona, Somerville, Martin J
Published in Paediatrics & child health (01.11.2010)
Published in Paediatrics & child health (01.11.2010)
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Journal Article
Involvement of ApoE E4 and H63D in Sporadic Alzheimer's Disease in a Folate-Supplemented Ontario Population
Percy, Maire, Moalem, Sharon, Garcia, Angeles, Somerville, Martin J., Hicks, Mark, Andrews, David, Azad, Azar, Schwarz, Peter, Zavareh, Reza Beheshti, Birkan, Rivka, Choo, Clara, Chow, Vinca, Dhaliwal, Sandeep, Duda, Victoria, Kupferschmidt, Anthony L., Lam, Kyla, Lightman, Deborah, Machalek, Karolina, Mar, Wanna, Nguyen, Frank, Rytwinski, Piotr J., Svara, Erin, Tran, Maithy, Yeung, Lisa, Zanibbi, Katherine, Zener, Rebecca, Ziraldo, Melissa, Freedman, Morris
Published in Journal of Alzheimer's disease (01.05.2008)
Published in Journal of Alzheimer's disease (01.05.2008)
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Journal Article
Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
Somerville, Martin J., Mervis, Carolyn B., Young, Edwin J., Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A., Morris, Colleen A., Scherer, Stephen W., Osborne, Lucy R.
Published in The New England journal of medicine (20.10.2005)
Published in The New England journal of medicine (20.10.2005)
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Journal Article
Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays
Scott, Patrick, Podemski, Lynn, Baptista Wyatt, Kelly, Walker, Christine, Haase, Shelagh M, Elyas, Basil G, Sprysak, Kathleen A, Lilley, Margaret, Christian, Susan, Hicks, Mark, Somerville, Martin J, Hume, Stacey L
Published in Genetic testing and molecular biomarkers (01.08.2012)
Published in Genetic testing and molecular biomarkers (01.08.2012)
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Journal Article
Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis
FOOTZ, Tim, SOMERVILLE, Martin J, TOMASZEWSKI, Robert, ELYAS, Basil, BACKHOUSE, Christopher J
Published in Analyst (London) (01.01.2004)
Published in Analyst (London) (01.01.2004)
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Journal Article
Report of an International Survey of Molecular Genetic Testing Laboratories
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
Published in Community genetics (01.01.2007)
Published in Community genetics (01.01.2007)
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Journal Article
On-chip HA/SSCP for the detection of hereditary haemochromatosis
Manage, Dammika P., Zheng, Yao, Somerville, Martin J., Backhouse, Christopher J.
Published in Microfluidics and nanofluidics (01.10.2005)
Published in Microfluidics and nanofluidics (01.10.2005)
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Journal Article
Neurofilament Light and Polyadenylated mRNA Levels Are Decreased in Amyotrophic Lateral Sclerosis Motor Neurons
BERGERON, CATHERINE, BERIC-MASKAREL, KARMENSITA, MUNTASSER, SIHAM, WEYER, LUITGARD, SOMERVILLE, MARTIN J, PERCY, MAIRE E
Published in Journal of neuropathology and experimental neurology (01.05.1994)
Published in Journal of neuropathology and experimental neurology (01.05.1994)
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Journal Article
Global variation in copy number in the human genome
Scherer, Stephen W, Hurles, Matthew E, Redon, Richard, Ishikawa, Shumpei, Fitch, Karen R, Feuk, Lars, Perry, George H, Andrews, T. Daniel, Fiegler, Heike, Shapero, Michael H, Carson, Andrew R, Chen, Wenwei, Cho, Eun Kyung, Dallaire, Stephanie, Freeman, Jennifer L, González, Juan R, Gratacòs, Mònica, Huang, Jing, Kalaitzopoulos, Dimitrios, Komura, Daisuke, MacDonald, Jeffrey R, Marshall, Christian R, Mei, Rui, Montgomery, Lyndal, Nishimura, Kunihiro, Okamura, Kohji, Shen, Fan, Somerville, Martin J, Tchinda, Joelle, Valsesia, Armand, Woodwark, Cara, Yang, Fengtang, Zhang, Junjun, Zerjal, Tatiana, Zhang, Jane, Armengol, Lluis, Conrad, Donald F, Estivill, Xavier, Tyler-Smith, Chris, Carter, Nigel P, Aburatani, Hiroyuki, Lee, Charles, Jones, Keith W
Published in Nature (23.11.2006)
Published in Nature (23.11.2006)
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