Hakutulokset - Matthew J. Gazzellone

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  1. 1
    Copy number variation in Han Chinese individuals with autism spectrum disorder

    Copy number variation in Han Chinese individuals with autism spectrum disorder Tekijä Matthew J. Gazzellone, Xue Zhou, Anath C. Lionel, Mohammed Uddin, Bhooma Thiruvahindrapuram, Shuang Liang, Caihong Sun, Jia Wang, Mingyang Zou, Kristiina Tammimies, Susan Walker, Thanuja Selvanayagam, John Wei, Zhuozhi Wang, Lijie Wu, Stephen W. Scherer

    Julkaistu 2014
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  2. 2
    Clinically relevant copy number variations detected in cerebral palsy

    Clinically relevant copy number variations detected in cerebral palsy Tekijä Maryam Oskoui, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Mehdi Zarrei, John Andersen, John Wei, Zhuozhi Wang, Richard F. Wintle, Christian R. Marshall, Ronald D. Cohn, Rosanna Weksberg, Dimitri J. Stavropoulos, Darcy Fehlings, Michael Shevell, Stephen W. Scherer

    Julkaistu 2015
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  3. 3
    Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

    Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome Tekijä Daniele Merico, Mehdi Zarrei, Gregory Costain, Lucas Ogura, Babak Alipanahi, Matthew J. Gazzellone, Nancy J. Butcher, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Eva W.C. Chow, Danielle M. Andrade, Brendan J. Frey, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Julkaistu 2015
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  4. 4
    Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

    Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation Tekijä Matthew J. Gazzellone, Mehdi Zarrei, Christie L. Burton, Susan Walker, Mohammed Uddin, S.‐M. Shaheen, Julie Coste, Rageen Rajendram, Reva Schachter, Marlena Colasanto, Gregory L. Hanna, David R. Rosenberg, Noam Soreni, Kate D. Fitzgerald, Christian R. Marshall, Janet A. Buchanan, Daniele Merico, Paul Arnold, Stephen W. Scherer

    Julkaistu 2016
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  5. 5
    A high-resolution copy-number variation resource for clinical and population genetics

    A high-resolution copy-number variation resource for clinical and population genetics Tekijä Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, Zhuozhi Wang, Pingzhao Hu, Sylvia Lamoureux, John Wei, Jeffrey R. MacDonald, Giovanna Pellecchia, Chao Lu, Anath C. Lionel, Matthew J. Gazzellone, John McLaughlin, Catherine Brown, Irene L. Andrulis, Julia A. Knight, Jo-Anne Herbrick, Richard F. Wintle, Peter N. Ray, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    Julkaistu 2014
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  6. 6
    De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

    De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Tekijä Mehdi Zarrei, Darcy Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R. MacDonald, Matthew J. Gazzellone, Edward J. Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R. Marshall, Dimitri J. Stavropoulos, Richard F. Wintle, Stephen W. Scherer

    Julkaistu 2017
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  7. 7
    Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

    Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay Tekijä Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, Lia D’Abate, Daniele Merico, Ada J. S. Chan, Mehdi Zarrei, Kristiina Tammimies, Susan Walker, Matthew J. Gazzellone, Thomas Nalpathamkalam, Ryan K. C. Yuen, Koenraad Devriendt, Géraldine Mathonnet, Emmanuelle Lemyre, Sonia Nizard, Mary Shago, Ann M. Joseph‐George, Abdul Noor, Melissa T. Carter, Grace Yoon, Pekka Kannus, Frédérique Tihy, Erik C. Thorland, Christian R. Marshall, Janet A. Buchanan, Marsha Speevak, Dimitri J. Stavropoulos, Stephen W. Scherer

    Julkaistu 2016
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  8. 8
    Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

    Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures Tekijä Anath C. Lionel, Andrea K. Vaags, Daisuke Sato, Matthew J. Gazzellone, Elyse Mitchell, Hongyang Chen, Gregory Costain, Susan Walker, Gerald Egger, Bhooma Thiruvahindrapuram, Daniele Merico, Aparna Prasad, Evdokia Anagnostou, Éric Fombonne, Lonnie Zwaigenbaum, Wendy Roberts, Peter Szatmari, Bridget A. Fernandez, Lyudmila Georgieva, Linda M. Brzustowicz, Katharina M. Roetzer, Wolfgang Kaschnitz, John B. Vincent, Christian Windpassinger, Christian R. Marshall, Rosario Rich Trifiletti, Salman Kirmani, George Kirov, Erwin Petek, Jennelle C. Hodge, Anne S. Bassett, Stephen W. Scherer

    Julkaistu 2013
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  9. 9
    CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

    CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders Tekijä Oriane Mercati, Guillaume Huguet, Anne Danckaert, Gwenaëlle André-Leroux, A. Maruani, Marco Bellinzoni, Thomas Rolland, Laura Gouder, Alexandre Mathieu, Julien Buratti, Frédérique Amsellem, Max E. Benabou, Julien Van‐Gils, Anita Beggiato, Marina Konyukh, JP Bourgeois, Matthew J. Gazzellone, Ryan K. C. Yuen, Susan Walker, Marc Delépine, Anne Boland, Béatrice Regnault, M. François, T. Van Den Abbeele, Anne-Laure Mosca-Boidron, Laurence Faivre, Yasushi Shimoda, Kazutada Watanabe, Dominique Bonneau, Maria Råstam, Marion Leboyer, Stephen W. Scherer, Christopher Gillberg, Richard Delorme, Isabelle Cloëz-Tayarani, Thomas Bourgeron

    Julkaistu 2016
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  10. 10
    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Tekijä Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett

    Julkaistu 2016
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  11. 11
    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

    Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome Tekijä Anne S. Bassett, Chelsea Lowther, Daniele Merico, Gregory Costain, Eva W.C. Chow, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Raquel E. Gur, Ann Swillen, Marianne B. M. van den Bree, Kieran C. Murphy, Doron Gothelf, Carrie E. Bearden, Stéphan Eliez, Wendy R. Kates, Nicole Philip, Vandana Sashi, Linda Campbell, Jacob Vorstman, Joseph F. Cubells, Gabriela M. Repetto, Tabassome Simon, Erik Boot, Tracy Heung, Rens Evers, Claudia Vingerhoets, Esther van Duin, Elaine H. Zackai, Elfi Vergaelen, Koenraad Devriendt, Joris Vermeesch, Michael J. Owen, Clodagh M. Murphy, Elena Michaelovosky, Leila Kushan, Maude Schneider, Wanda Fremont, Tiffany Busa, Stephen R. Hooper, Kathryn McCabe, Sasja N. Duijff, Keren Isaev, Giovanna Pellecchia, John Wei, Matthew J. Gazzellone, Stephen W. Scherer, Beverly S. Emanuel, Tingwei Guo, Bernice E. Morrow, Christian R. Marshall

    Julkaistu 2017
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  12. 12
    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Tekijä A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags, Jill A. Rosenfeld, Joo Wook Ahn, Daniele Merico, Abdul Noor, Cassandra Runke, Vamsee Pillalamarri, M. T. Carter, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone Walentin Laulund, Giovanna Pellecchia, Sylvia Lamoureux, Charu Deshpande, Jill Clayton‐Smith, A. Clinton White, Susan Leather, J Q Trounce, H. Melanie Bedford, Eli Hatchwell, Peggy S. Eis, Ryan K. C. Yuen, Susan Walker, Mohammed Uddin, Michael T. Geraghty, Sarah M. Nikkel, Eva Tomiak, Bridget A. Fernandez, Noam Soreni, Jennifer Crosbie, Paul Arnold, Russell Schachar, Wendy Roberts, Andrew D. Paterson, Jonathan So, Péter Szatmári, Christina Chrysler, Marc Woodbury‐Smith, R. Brian Lowry, Lonnie Zwaigenbaum, D. Mandyam, John Wei, Jeffrey R. MacDonald, Jennifer Howe, Thomas Nalpathamkalam, Z. Wang, Debbie Tolson, Donna Cobb, Timothy Wilks, Merete Juul Sørensen, Patricia I. Bader, Yu An, Bai-Lin Wu, S Musumeci, Corrado Romano, Diana Postorivo, A. Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli, Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch‐Andersen, Marsha Speevak, Marco Fichera, Caroline Mackie Ogilvie, Ya Shen, JM Hodge, Michael E. Talkowski, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    Julkaistu 2013
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