Warsaw breakage syndrome: Further clinical and genetic delineation
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Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Genome assembly comparison identifies structural variants in the human genome
Khaja, Razi, Zhang, Junjun, MacDonald, Jeffrey R, He, Yongshu, Joseph-George, Ann M, Wei, John, Rafiq, Muhammad A, Qian, Cheng, Shago, Mary, Pantano, Lorena, Aburatani, Hiroyuki, Jones, Keith, Redon, Richard, Hurles, Matthew, Armengol, Lluis, Estivill, Xavier, Mural, Richard J, Lee, Charles, Scherer, Stephen W, Feuk, Lars
Published in Nature genetics (01.12.2006)
Published in Nature genetics (01.12.2006)
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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
Sabatini, Peter J B, Ejaz, Resham, Stavropoulos, Dimitri J, Mendoza-Londono, Roberto, Joseph-George, Ann M
Published in Molecular cytogenetics (28.08.2018)
Published in Molecular cytogenetics (28.08.2018)
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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
Fernandez, Bridget A, Roberts, Wendy, Chung, Brian, Weksberg, Rosanna, Meyn, Stephen, Szatmari, Peter, Joseph-George, Ann M, MacKay, Sara, Whitten, Kathy, Noble, Barbara, Vardy, Cathy, Crosbie, Victoria, Luscombe, Sandra, Tucker, Eva, Turner, Lesley, Marshall, Christian R, Scherer, Stephen W
Published in Journal of medical genetics (01.03.2010)
Published in Journal of medical genetics (01.03.2010)
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D'Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J, Nalpathamkalam, Thomas, Yuen, Ryan K C, Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M, Noor, Abdul, Carter, Melissa T, Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C, Marshall, Christian R, Buchanan, Janet A, Speevak, Marsha, Stavropoulos, Dimitri J, Scherer, Stephen W
Published in Scientific reports (01.07.2016)
Published in Scientific reports (01.07.2016)
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Complete functional rescue of the ABCA1[superscript -/-] mouse by human BAC transgenesis
Coutinho, Jonathan M, Singaraja, Roshni R, Kang, Martin, Arenillas, David J, Bertram, Lisa N, Bissada, Nagat, Staels, Bart, Fruchart, Jean-Charles, Fievet, Catherine, Joseph-George, Ann M, Wasserman, Wyeth W, Hayden, Michael R
Published in Journal of lipid research (01.06.2005)
Published in Journal of lipid research (01.06.2005)
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MuLV-related endogenous retroviral elements and Flt3 participate in aberrant end-joining events that promote B-cell leukemogenesis
Johnson, Radia M, Papp, Eniko, Grandal, Ildiko, Kowalski, Paul E, Nutter, Lauryl, Wong, Raymond C C, Joseph-George, Ann M, Danska, Jayne S, Guidos, Cynthia J
Published in Genes & development (01.06.2014)
Published in Genes & development (01.06.2014)
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PGD for a carrier of an intrachromosomal insertion using aCGH
Jones, Claire Ann, Kolomietz, Elena, Maire, Georges, Vlasschaert, Matthew, Joseph-George, Ann M., Myles-Reid, Diane, Chong, Karen, Chitayat, David, Arthur, Rebecca
Published in Systems biology in reproductive medicine (01.12.2014)
Published in Systems biology in reproductive medicine (01.12.2014)
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Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
Rodan, Lance H, Zak, Maria, Stavropoulos, James, Joseph-George, Ann M, Minassian, Berge A
Published in Neurology. Genetics (01.02.2016)
Published in Neurology. Genetics (01.02.2016)
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Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
Joseph-George, Ann M, He, Yongshu, Marshall, Christian R, Wong, Raymond C C, MacDonald, Jeffrey R, Fahey, Ciara A, Chitayat, David, Chun, Kathy, Ryan, Greg, Summers, Anne M, Winsor, Elizabeth J T, Scherer, Stephen W
Published in Journal of medical genetics (01.05.2011)
Published in Journal of medical genetics (01.05.2011)
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Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions : Copy-number variation
JOSEPH-GEORGE, Ann M, YONGSHU HE, WINSOR, Elizabeth J. T, SCHERER, Stephen W, MARSHALL, Christian R, WONG, Raymond C. C, MACDONALD, Jeffrey R, FAHEY, Ciara A, CHITAYAT, David, CHUN, Kathy, RYAN, Greg, SUMMERS, Anne M
Published in Journal of medical genetics (2011)
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Published in Journal of medical genetics (2011)
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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
Sabatini, Peter J B, Ejaz, Resham, Stavropoulos, Dimitri J, Mendoza-Londono, Roberto, Joseph-George, Ann M
Published in Molecular cytogenetics (01.01.2018)
Published in Molecular cytogenetics (01.01.2018)
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PGD for a carrier of an intrachromosomal insertion using aCGH
Jones, Claire Ann, Kolomietz, Elena, Maire, Georges, Vlasschaert, Matthew, Joseph-George, Ann M., Myles-Reid, Diane, Chong, Karen, Chitayat, David, Arthur, Rebecca
Published in Systems Biology in Reproductive Medicine (01.12.2014)
Published in Systems Biology in Reproductive Medicine (01.12.2014)
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