Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia

by Mokhtar, Siti Shuhada, Marshall, Christian R., Phipps, Maude E., Thiruvahindrapuram, Bhooma, Lionel, Anath C., Scherer, Stephen W., Peng, Hoh Boon
Published 2014

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

by 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 2012

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

by Boon-Peng, Hoh, Mat Jusoh, Julia Ashazila, Marshall, Christian R., Majid, Fadhlina, Danuri, Norlaila, Basir, Fashieha, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Yusoff, Khalid
Published 2016

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

by Prasad, Aparna, Merico, Daniele, Thiruvahindrapuram, Bhooma, Wei, John, Lionel, Anath C., Sato, Daisuke, Rickaby, Jessica, Lu, Chao, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget A., Marshall, Christian R., Hatchwell, Eli, Eis, Peggy S., Scherer, Stephen W.
Published 2012

Clinically relevant copy number variations detected in cerebral palsy

by 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 2015

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

by 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.
Published 2015

Copy number variation in Han Chinese individuals with autism spectrum disorder

by 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
Published 2014

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

by Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Published 2015

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

by Correia, Catarina T, Conceição, Inês C, Oliveira, Bárbara, Coelho, Joana, Sousa, Inês, Sequeira, Ana F, Almeida, Joana, Café, Cátia, Duque, Frederico, Mouga, Susana, Roberts, Wendy, Gao, Kun, Lowe, Jennifer K, Thiruvahindrapuram, Bhooma, Walker, Susan, Marshall, Christian R, Pinto, Dalila, Nurnberger, John I, Scherer, Stephen W, Geschwind, Daniel H, Oliveira, Guiomar, Vicente, Astrid M
Published 2014

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

by 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 2016

Genome-wide characteristics of de novo mutations in autism

by Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W
Published 2016