Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Jiang, Yong-hui, Yuen, Ryan K.C., Jin, Xin, Wang, Mingbang, Chen, Nong, Wu, Xueli, Ju, Jia, Mei, Junpu, Shi, Yujian, He, Mingze, Wang, Guangbiao, Liang, Jieqin, Wang, Zhe, Cao, Dandan, Carter, Melissa T., Chrysler, Christina, Drmic, Irene E., Howe, Jennifer L., Lau, Lynette, Marshall, Christian R., Merico, Daniele, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Thompson, Ann, Uddin, Mohammed, Walker, Susan, Luo, Jun, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Ring, Robert H., Wang, Jian, Lajonchere, Clara, Wang, Jun, Shih, Andy, Szatmari, Peter, Yang, Huanming, Dawson, Geraldine, Li, Yingrui, Scherer, Stephen W.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Genome sequencing as a diagnostic test
Costain, Gregory, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Published in Canadian Medical Association journal (CMAJ) (25.10.2021)
Published in Canadian Medical Association journal (CMAJ) (25.10.2021)
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Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, Rainald, Marshall, Christian R., Sutcliffe, James S., Skaug, Jennifer, Pinto, Dalila, Vincent, John, Zwaigenbaum, Lonnie, Fernandez, Bridget, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
Silversides, Candice K, Lionel, Anath C, Costain, Gregory, Merico, Daniele, Migita, Ohsuke, Liu, Ben, Yuen, Tracy, Rickaby, Jessica, Thiruvahindrapuram, Bhooma, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S
Published in PLoS genetics (01.08.2012)
Published in PLoS genetics (01.08.2012)
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A framework for an evidence-based gene list relevant to autism spectrum disorder
Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., Vorstman, Jacob A. S.
Published in Nature reviews. Genetics (01.06.2020)
Published in Nature reviews. Genetics (01.06.2020)
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Rappold, Gudrun A, Berkel, Simone, Marshall, Christian R, Weiss, Birgit, Howe, Jennifer, Roeth, Ralph, Moog, Ute, Endris, Volker, Roberts, Wendy, Szatmari, Peter, Pinto, Dalila, Bonin, Michael, Riess, Angelika, Engels, Hartmut, Sprengel, Rolf, Scherer, Stephen W
Published in Nature genetics (01.06.2010)
Published in Nature genetics (01.06.2010)
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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
Vaags, Andrea K., Lionel, Anath C., Sato, Daisuke, Goodenberger, McKinsey, Stein, Quinn P., Curran, Sarah, Ogilvie, Caroline, Ahn, Joo Wook, Drmic, Irene, Senman, Lili, Chrysler, Christina, Thompson, Ann, Russell, Carolyn, Prasad, Aparna, Walker, Susan, Pinto, Dalila, Marshall, Christian R., Stavropoulos, Dimitri J., Zwaigenbaum, Lonnie, Fernandez, Bridget A., Fombonne, Eric, Bolton, Patrick F., Collier, David A., Hodge, Jennelle C., Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
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Journal Article
SHANK1 Deletions in Males with Autism Spectrum Disorder
Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
Yoon, Grace, MD, Malam, Zeenat, PhD, Paton, Tara, PhD, Marshall, Christian R., PhD, Hyatt, Ella, BSc, Ivakine, Zhenya, PhD, Scherer, Stephen W., PhD, Lee, Kyong-Soon, MD, Hawkins, Cynthia, MD, PhD, Cohn, Ronald D., MD
Published in The Journal of pediatrics (01.04.2016)
Published in The Journal of pediatrics (01.04.2016)
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Clinically relevant copy number variations detected in cerebral palsy
Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.
Published in Nature communications (03.08.2015)
Published in Nature communications (03.08.2015)
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Genome-wide tandem repeat expansions contribute to schizophrenia risk
Mojarad, Bahareh A., Engchuan, Worrawat, Trost, Brett, Backstrom, Ian, Yin, Yue, Thiruvahindrapuram, Bhooma, Pallotto, Linda, Mitina, Aleksandra, Khan, Mahreen, Pellecchia, Giovanna, Haque, Bushra, Guo, Keyi, Heung, Tracy, Costain, Gregory, Scherer, Stephen W., Marshall, Christian R., Pearson, Christopher E., Bassett, Anne S., Yuen, Ryan K. C.
Published in Molecular psychiatry (01.09.2022)
Published in Molecular psychiatry (01.09.2022)
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Séquençage du génome comme test diagnostique
Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., Marshall, Christian R.
Published in Canadian Medical Association journal (CMAJ) (07.02.2022)
Published in Canadian Medical Association journal (CMAJ) (07.02.2022)
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Whole-genome sequencing of quartet families with autism spectrum disorder
Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W
Published in Nature medicine (01.02.2015)
Published in Nature medicine (01.02.2015)
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A
Published in JAMA : the journal of the American Medical Association (01.09.2015)
Published in JAMA : the journal of the American Medical Association (01.09.2015)
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Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature
Man, Alice, Di Scipio, Matteo, McConkey, Haley, Hough, Rebecca, Stein, Nina, Diehl, Eric, Marshall, Christian R, Sadikovic, Bekim, Ejaz, Resham
Published in American journal of medical genetics. Part A (26.09.2024)
Published in American journal of medical genetics. Part A (26.09.2024)
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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S, Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D, Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M Stephen, Stavropoulos, Dimitri J, Scherer, Stephen W, Mendoza-Londono, Roberto, Marshall, Christian R
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
Lionel, Anath C, Crosbie, Jennifer, Barbosa, Nicole, Goodale, Tara, Thiruvahindrapuram, Bhooma, Rickaby, Jessica, Gazzellone, Matthew, Carson, Andrew R, Howe, Jennifer L, Wang, Zhuozhi, Wei, John, Stewart, Alexandre F R, Roberts, Robert, McPherson, Ruth, Fiebig, Andreas, Franke, Andre, Schreiber, Stefan, Zwaigenbaum, Lonnie, Fernandez, Bridget A, Roberts, Wendy, Arnold, Paul D, Szatmari, Peter, Marshall, Christian R, Schachar, Russell, Scherer, Stephen W
Published in Science translational medicine (10.08.2011)
Published in Science translational medicine (10.08.2011)
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