Understanding the impact of 1q21.1 copy number variant von Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne M E, O'Driscoll, Mark, Rajcan-Separovic, Evica

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Non-muscle myosin heavy chain (MYH9): A new partner fused to ALK in anaplastic large cell lymphoma von Lamant, Laurence, Gascoyne, Randy D., Duplantier, Marie Michèle, Armstrong, Florence, Raghab, Ashraf, Chhanabhai, Mukesh, Rajcan-Separovic, Evica, Raghab, Janie, Delsol, Georges, Espinos, Estelle

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Genomic imbalances in the placenta are associated with poor fetal growth von Del Gobbo, Giulia F, Yin, Yue, Choufani, Sanaa, Butcher, Emma A, Wei, John, Rajcan-Separovic, Evica, Bos, Hayley, von Dadelszen, Peter, Weksberg, Rosanna, Robinson, Wendy P, Yuen, Ryan K C

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Whole exome sequencing in recurrent early pregnancy loss von Qiao, Ying, Wen, Jiadi, Tang, Flamingo, Martell, Sally, Shomer, Naomi, Leung, Peter C.K., Stephenson, Mary D., Rajcan-Separovic, Evica

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Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort von Callaghan, Daniel Benjamin, Rogic, Sanja, Tan, Powell Patrick Cheng, Calli, Kristina, Qiao, Ying, Baldwin, Robert, Jacobson, Matthew, Belmadani, Manuel, Holmes, Nathan, Yu, Chang, Li, Yanchen, Li, Yingrui, Kurtzke, Franz‐Edward, Kuzeljevic, Boris, Yu, An Yi, Hudson, Melissa, Mcaughton, Amy J.M., Xu, Yuchen, Dionne‐Laporte, Alexandre, Girard, Simon, Liang, Ping, Separovic, Evica Rajcan, Liu, Xudong, Rouleau, Guy, Pavlidis, Paul, Lewis, M.E. Suzanne

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Whole exome sequencing of families with 1q21.1 microdeletion or microduplication von Qiao, Ying, Badduke, Chansonette, Tang, Flamingo, Cowieson, David, Martell, Sally, Lewis, Suzanne M. E., Peñaherrera, Maria S., Robinson, Wendy P., Volchuk, Allen, Rajcan‐Separovic, Evica

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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray von Douglas, Ganka, Meck, Jeanne, Dyer, Lindsay Havens, Brandon, Rhonda, Dyer, Lisa, Ferri, Patricia Fernandez, Liao, Mingjuan, Liu, Shuxi, Matyakhina, Ludmila, Rajcan-Separovic, Evica, Sack, Laura, Sanyoura, May, Wang, Wei, Kruszka, Paul

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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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Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb von Tan, Powell Patrick Cheng, Rogic, Sanja, Zoubarev, Anton, McDonald, Cameron, Lui, Frances, Charathsandran, Gayathiri, Jacobson, Matthew, Belmadani, Manuel, Leong, Justin, Van Rossum, Thea, Portales-Casamar, Elodie, Qiao, Ying, Calli, Kristina, Liu, Xudong, Hudson, Melissa, Rajcan-Separovic, Evica, Lewis, ME Suzanne, Pavlidis, Paul

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The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review von Lopes, Fátima, Torres, Fátima, Soares, Gabriela, van Karnebeek, Clara D, Martins, Cecília, Antunes, Diana, Silva, João, Muttucomaroe, Lauren, Botelho, Luís Filipe, Sousa, Susana, Rendeiro, Paula, Tavares, Purificação, Van Esch, Hilde, Rajcan-Separovic, Evica, Maciel, Patrícia

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Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes von Qiao, Ying, Mondal, Kajari, Trapani, Valentina, Wen, Jiadi, Carpenter, Gillian, Wildin, Robert, Price, E. Magda, Gibbons, Richard J., Eichmeyer, Jennifer, Jiang, Ruby, DuPont, Barbara, Martell, Sally, Lewis, Suzanne M. E., Robinson, Wendy P., O'Driscoll, Mark, Wolf, Federica I., Zwick, Michael E., Rajcan-Separovic, Evica

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Expression and Genetic Analysis of XIAP-Associated Factor 1 (XAF1) in Cancer Cell Lines von Fong, Wai Gin, Liston, Peter, Rajcan-Separovic, Evica, St. Jean, Martine, Craig, Constance, Korneluk, Robert G.

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Next generation sequencing in recurrent pregnancy loss-approaches and outcomes von Rajcan-Separovic, Evica

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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH von Tyson, Christine, Qiao, Ying, Harvard, Chansonette, Liu, Xudong, Bernier, Francois P, McGillivray, Barbara, Farrell, Sandra A, Arbour, Laura, Chudley, Albert E, Clarke, Lorne, Gibson, William, Dyack, Sarah, McLeod, Ross, Costa, Teresa, Vanallen, Margot I, Yong, Siu-Li, Graham, Gail E, Macleod, Patrick, Patel, Millan S, Hurlburt, Jane, Holden, Jeanette Ja, Lewis, Suzanne Me, Rajcan-Separovic, Evica

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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly von Tachdjian, Gérard, Brisset, Sophie, Drévillon, Loïc, Métay, Corinne, Saada, Julien, Martinovic, Jelena, Tosca, Lucie, Naud, Marie-Emmanuelle, Benoit, Virginie

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Chromosome microarrays in human reproduction von Rajcan-Separovic, Evica

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Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH von Tyson, Christine, McGillivray, Barbara, Chijiwa, Chieko, Rajcan-Separovic, Evica

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Exceptional Complex Chromosomal Rearrangements in Three Generations von Trimarsanto, Hidayat, Paramayuda, Chrysantine, Harahap, Alida Roswita, Idris, Firman Prathama, Ambarwati, Debby Dwi, Anggaratri, Helena Woro, Suciati, Lita Putri, Francis, David, Pertile, Mark D., Marzuki, Nanis Sacharina, Kartapradja, Hannie, Lesmana, Harry

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Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

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Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis von Qiao, Ying, Liu, Xudong, Harvard, Chansonette, Nolin, Sarah L, Brown, W Ted, Koochek, Maryam, Holden, Jeanette J A, Lewis, M E Suzanne, Rajcan-Separovic, Evica

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