The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations von 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

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

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

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

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Homocysteine is not associated with global motor or cognitive measures in nondemented older Parkinson's disease patients von Camicioli, Richard M., Bouchard, Thomas P., Somerville, Martin J.

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Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3 von Gibson, William T., Harvard, Chansonette, Qiao, Ying, Somerville, Martin J., Lewis, M.E. Suzanne, Rajcan‐Separovic, Evica

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Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells von McDaniel, Lisa D., Tomkins, Darrell J., Stanbridge, Eric J., Somerville, Martin J., Friedberg, Errol C., Schultz, Roger A.

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

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

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A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple Café-au-Lait spots von WHITESIDE, Darcy, MCLEOD, Ross, GRAHAM, Gail, STECKLEY, Jamie L, BOOTH, Karen, SOMERVILLE, Martin J, ANDREW, Susan E

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Newborn screening for cystic fibrosis in Alberta: Two years of experience von Lilley, Margaret, Christian, Susan, Hume, Stacey, Scott, Patrick, Montgomery, Mark, Semple, Lisa, Zuberbuhler, Peter, Tabak, Joan, Bamforth, Fiona, Somerville, Martin J

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Global variation in copy number in the human genome von 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

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Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis von FOOTZ, Tim, SOMERVILLE, Martin J, TOMASZEWSKI, Robert, ELYAS, Basil, BACKHOUSE, Christopher J

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Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays von 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

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

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Neurofilament Light and Polyadenylated mRNA Levels Are Decreased in Amyotrophic Lateral Sclerosis Motor Neurons von BERGERON, CATHERINE, BERIC-MASKAREL, KARMENSITA, MUNTASSER, SIHAM, WEYER, LUITGARD, SOMERVILLE, MARTIN J, PERCY, MAIRE E

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On-chip HA/SSCP for the detection of hereditary haemochromatosis von Manage, Dammika P., Zheng, Yao, Somerville, Martin J., Backhouse, Christopher J.

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Report of an International Survey of Molecular Genetic Testing Laboratories von 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

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An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis von Somerville, Martin J., Sprysak, Kathleen A., Hicks, Mark, Elyas, Basil G., Vicen-Wyhony, Leanne

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Heteroduplex-based genotyping with microchip electrophoresis and dHPLC von Footz, Tim, Somerville, Martin J, Tomaszewski, Robert, Sprysak, Kathleen A, Backhouse, Christopher J

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