Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications

Por Costain, Gregory, Lionel, Anath C., Fu, Fiona, Stavropoulos, Dimitri J., Gazzellone, Matthew J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado no Am J Med Genet B Neuropsychiatr Genet (2014)

Copy number variation in Han Chinese individuals with autism spectrum disorder

Por Gazzellone, Matthew J, Zhou, Xue, Lionel, Anath C, Uddin, Mohammed, Thiruvahindrapuram, Bhooma, Liang, Shuang, Sun, Caihong, Wang, Jia, Zou, Mingyang, Tammimies, Kristiina, Walker, Susan, Selvanayagam, Thanuja, Wei, John, Wang, Zhuozhi, Wu, Lijie, Scherer, Stephen W
Publicado em 2014

Clinically relevant copy number variations detected in cerebral palsy

Por 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.
Publicado no Nat Commun (2015)

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

Por Merico, Daniele, Zarrei, Mehdi, Costain, Gregory, Ogura, Lucas, Alipanahi, Babak, Gazzellone, Matthew J., Butcher, Nancy J., Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Chow, Eva W. C., Andrade, Danielle M., Frey, Brendan J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado no G3 (Bethesda) (2015)

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

Por Gazzellone, Matthew J., Zarrei, Mehdi, Burton, Christie L., Walker, Susan, Uddin, Mohammed, Shaheen, S. M., Coste, Julie, Rajendram, Rageen, Schachter, Reva J., Colasanto, Marlena, Hanna, Gregory L., Rosenberg, David R., Soreni, Noam, Fitzgerald, Kate D., Marshall, Christian R., Buchanan, Janet A., Merico, Daniele, Arnold, Paul D., Scherer, Stephen W.
Publicado no J Neurodev Disord (2016)

A High-Resolution Copy Number Variation Resource for Clinical and Population Genetics

Por Uddin, Mohammed, Thiruvahindrapuram, Bhooma, Walker, Susan, Wang, Zhuozhi, Hu, Pingzhao, Lamoureux, Sylvia, Wei, John, MacDonald, Jeffrey R., Pellecchia, Giovanna, Lu, Chao, Lionel, Anath C., Gazzellone, Matthew J., McLaughlin, John R., Brown, Catherine, Andrulis, Irene L., Knight, Julia A., Herbrick, Jo-Anne, Wintle, Richard F., Ray, Peter, Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Publicado no Genet Med (2014)

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

Por Zarrei, Mehdi, Fehlings, Darcy L, Mawjee, Karizma, Switzer, Lauren, Thiruvahindrapuram, Bhooma, Walker, Susan, Merico, Daniele, Casallo, Guillermo, Uddin, Mohammed, MacDonald, Jeffrey R, Gazzellone, Matthew J, Higginbotham, Edward J, Campbell, Craig, deVeber, Gabrielle, Frid, Pam, Gorter, Jan Willem, Hunt, Carolyn, Kawamura, Anne, Kim, Marie, McCormick, Anna, Mesterman, Ronit, Samdup, Dawa, Marshall, Christian R, Stavropoulos, Dimitri J, Wintle, Richard F, Scherer, Stephen W
Publicado no Genet Med (2018)

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Por 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.
Publicado no Sci Rep (2016)

Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome

Por Bassett, Anne S., Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W. C., van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E., Swillen, Ann, Van den Bree, Marianne, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E., Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M., Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zakai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R., Owen, Michael, Murphy, Clodagh, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J., Scherer, Stephen W., Emanuel, Beverly S., Guo, Tingwei, Morrow, Bernice E., Marshall, Christian R.
Publicado no Am J Psychiatry (2017)

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

Por Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Publicado em 2014