The Database of Genomic Variants: a curated collection of structural variation in the human genome by MacDonald, Jeffrey R, Ziman, Robert, Yuen, Ryan K C, Feuk, Lars, Scherer, Stephen W

Get full text

Origins and functional impact of copy number variation in the human genome by Scherer, Stephen W, Hurles, Matthew E, Conrad, Donald F, Pinto, Dalila, Redon, Richard, Feuk, Lars, Gokcumen, Omer, Zhang, Yujun, Aerts, Jan, Andrews, T. Daniel, Barnes, Chris, Campbell, Peter, Fitzgerald, Tomas, Hu, Min, Ihm, Chun Hwa, Kristiansson, Kati, MacArthur, Daniel G, MacDonald, Jeffrey R, Onyiah, Ifejinelo, Pang, Andy Wing Chun, Robson, Sam, Stirrups, Kathy, Valsesia, Armand, Walter, Klaudia, Wei, John, Tyler-Smith, Chris, Carter, Nigel P, Lee, Charles

Get full text

Global variation in copy number in the human genome by Scherer, Stephen W, Hurles, Matthew E, Redon, Richard, Ishikawa, Shumpei, Fitch, Karen R, Feuk, Lars, Perry, George H, Andrews, T. Daniel, Fiegler, Heike, Shapero, Michael H, Carson, Andrew R, Chen, Wenwei, Cho, Eun Kyung, Dallaire, Stephanie, Freeman, Jennifer L, González, Juan R, Gratacòs, Mònica, Huang, Jing, Kalaitzopoulos, Dimitrios, Komura, Daisuke, MacDonald, Jeffrey R, Marshall, Christian R, Mei, Rui, Montgomery, Lyndal, Nishimura, Kunihiro, Okamura, Kohji, Shen, Fan, Somerville, Martin J, Tchinda, Joelle, Valsesia, Armand, Woodwark, Cara, Yang, Fengtang, Zhang, Junjun, Zerjal, Tatiana, Zhang, Jane, Armengol, Lluis, Conrad, Donald F, Estivill, Xavier, Tyler-Smith, Chris, Carter, Nigel P, Aburatani, Hiroyuki, Lee, Charles, Jones, Keith W

Get full text

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants by Feuk, Lars, Pinto, Dalila, Darvishi, Katayoon, Shi, Xinghua, Rajan, Diana, Rigler, Diane, Fitzgerald, Tom, Lionel, Anath C, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R, Mills, Ryan, Prasad, Aparna, Noonan, Kristin, Gribble, Susan, Prigmore, Elena, Donahoe, Patricia K, Smith, Richard S, Park, Ji Hyeon, Hurles, Matthew E, Carter, Nigel P, Lee, Charles, Scherer, Stephen W

Get full text

Towards a comprehensive structural variation map of an individual human genome by Pang, Andy W, MacDonald, Jeffrey R, Pinto, Dalila, Wei, John, Rafiq, Muhammad A, Conrad, Donald F, Park, Hansoo, Hurles, Matthew E, Lee, Charles, Venter, J Craig, Kirkness, Ewen F, Levy, Samuel, Feuk, Lars, Scherer, Stephen W

Get full text

A large data resource of genomic copy number variation across neurodevelopmental disorders by Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.

Get full text

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder by Chan, Ada J. S., Engchuan, Worrawat, Reuter, Miriam S., Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Trost, Brett, Nalpathamkalam, Thomas, Negrijn, Carol, Lamoureux, Sylvia, Pellecchia, Giovanna, Patel, Rohan V., Sung, Wilson W. L., MacDonald, Jeffrey R., Howe, Jennifer L., Vorstman, Jacob, Sondheimer, Neal, Takahashi, Nicole, Miles, Judith H., Anagnostou, Evdokia, Tammimies, Kristiina, Zarrei, Mehdi, Merico, Daniele, Stavropoulos, Dimitri J., Yuen, Ryan K. C., Fernandez, Bridget A., Scherer, Stephen W.

Get full text

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse by Li, Catherine F, MacDonald, Jeffrey R, Wei, Robert Y, Ray, Jocelyn, Lau, Kimberly, Kandel, Christopher, Koffman, Rachel, Bell, Sherilyn, Scherer, Stephen W, Alman, Benjamin A

Get full text

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data by 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.

Get full text

Genomic architecture of autism from comprehensive whole-genome sequence annotation by Trost, Brett, Thiruvahindrapuram, Bhooma, Chan, Ada J.S., Engchuan, Worrawat, Higginbotham, Edward J., Howe, Jennifer L., Loureiro, Livia O., Reuter, Miriam S., Roshandel, Delnaz, Whitney, Joe, Zarrei, Mehdi, Bookman, Matthew, Somerville, Cherith, Shaath, Rulan, Abdi, Mona, Aliyev, Elbay, Patel, Rohan V., Pellecchia, Giovanna, Hamdan, Omar, Kaur, Gaganjot, Wang, Zhuozhi, MacDonald, Jeffrey R., Wei, John, Sung, Wilson W.L., Lamoureux, Sylvia, Hoang, Ny, Selvanayagam, Thanuja, Deflaux, Nicole, Geng, Melissa, Ghaffari, Siavash, Bates, John, Young, Edwin J., Ding, Qiliang, Shum, Carole, D'Abate, Lia, Bradley, Clarrisa A., Rutherford, Annabel, Aguda, Vernie, Apresto, Beverly, Chen, Nan, Desai, Sachin, Du, Xiaoyan, Fong, Matthew L.Y., Pullenayegum, Sanjeev, Samler, Kozue, Wang, Ting, Ho, Karen, Paton, Tara, Pereira, Sergio L., Herbrick, Jo-Anne, Fuerth, Jonathan, Noppornpitak, Juti, Ward, Heather, Magee, Patrick, Al Baz, Ayman, Kajendirarajah, Usanthan, Vlasblom, Jim, Valluri, Monica, Green, Joseph, Seifer, Vicki, Quirbach, Morgan, Rennie, Olivia, Kelley, Elizabeth, Masjedi, Nina, Lord, Catherine, Szego, Michael J., Zawati, Ma'n H., Lang, Michael, Strug, Lisa J., Marshall, Christian R., Costain, Gregory, Calli, Kristina, Iaboni, Alana, Yusuf, Afiqah, Ambrozewicz, Patricia, Gallagher, Louise, Amaral, David G., Brian, Jessica, Elsabbagh, Mayada, Georgiades, Stelios, Messinger, Daniel S., Ozonoff, Sally, Sebat, Jonathan, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Kushki, Azadeh, Frazier, Thomas W., Vorstman, Jacob A.S., Fakhro, Khalid A., Fernandez, Bridget A., Lewis, M.E. Suzanne, Weksberg, Rosanna, Fiume, Marc, Yuen, Ryan K.C., Anagnostou, Evdokia, Sondheimer, Neal, Glazer, David, Hartley, Dean M.

Get full text

The diploid genome sequence of an individual human by Levy, Samuel, Sutton, Granger, Ng, Pauline C, Feuk, Lars, Halpern, Aaron L, Walenz, Brian P, Axelrod, Nelson, Huang, Jiaqi, Kirkness, Ewen F, Denisov, Gennady, Lin, Yuan, MacDonald, Jeffrey R, Pang, Andy Wing Chun, Shago, Mary, Stockwell, Timothy B, Tsiamouri, Alexia, Bafna, Vineet, Bansal, Vikas, Kravitz, Saul A, Busam, Dana A, Beeson, Karen Y, McIntosh, Tina C, Remington, Karin A, Abril, Josep F, Gill, John, Borman, Jon, Rogers, Yu-Hui, Frazier, Marvin E, Scherer, Stephen W, Strausberg, Robert L, Venter, J Craig

Get full text

Gene copy number variation and pediatric mental health/neurodevelopment in a general population by Zarrei, Mehdi, Burton, Christie L, Engchuan, Worrawat, Higginbotham, Edward J, Wei, John, Shaikh, Sabah, Roslin, Nicole M, MacDonald, Jeffrey R, Pellecchia, Giovanna, Nalpathamkalam, Thomas, Lamoureux, Sylvia, Manshaei, Roozbeh, Howe, Jennifer, Trost, Brett, Thiruvahindrapuram, Bhooma, Marshall, Christian R, Yuen, Ryan K C, Wintle, Richard F, Strug, Lisa J, Stavropoulos, Dimitri J, Vorstman, Jacob A S, Arnold, Paul, Merico, Daniele, Woodbury-Smith, Marc, Crosbie, Jennifer, Schachar, Russell J, Scherer, Stephen W

Get full text

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants by Reuter, Miriam S, Walker, Susan, Thiruvahindrapuram, Bhooma, Whitney, Joe, Cohn, Iris, Sondheimer, Neal, Yuen, Ryan K C, Trost, Brett, Paton, Tara A, Pereira, Sergio L, Herbrick, Jo-Anne, Wintle, Richard F, Merico, Daniele, Howe, Jennifer, MacDonald, Jeffrey R, Lu, Chao, Nalpathamkalam, Thomas, Sung, Wilson W L, Wang, Zhuozhi, Patel, Rohan V, Pellecchia, Giovanna, Wei, John, Strug, Lisa J, Bell, Sherilyn, Kellam, Barbara, Mahtani, Melanie M, Bassett, Anne S, Bombard, Yvonne, Weksberg, Rosanna, Shuman, Cheryl, Cohn, Ronald D, Stavropoulos, Dimitri J, Bowdin, Sarah, Hildebrandt, Matthew R, Wei, Wei, Romm, Asli, Pasceri, Peter, Ellis, James, Ray, Peter, Meyn, M Stephen, Monfared, Nasim, Hosseini, S Mohsen, Joseph-George, Ann M, Keeley, Fred W, Cook, Ryan A, Fiume, Marc, Lee, Hin C, Marshall, Christian R, Davies, Jill, Hazell, Allison, Buchanan, Janet A, Szego, Michael J, Scherer, Stephen W

Get full text

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta‐analysis by Zhang, Yanqing, Liu, Yi, Zarrei, Mehdi, Tong, Winnie, Dong, Rui, Wang, Ying, Zhang, Haiyan, Yang, Xiaomeng, MacDonald, Jeffrey R., Uddin, Mohammed, Scherer, Stephen W., Gai, Zhongtao

Get full text

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy by Nakabayashi, Kazuhiko, Amann, Daniela, Ren, Yan, Saarialho-Kere, Ulpu, Avidan, Nili, Gentles, Simone, MacDonald, Jeffrey R., Puffenberger, Erik G., Christiano, Angela M., Martinez-Mir, Amalia, Salas-Alanis, Julio C., Rizzo, Renata, Vamos, Esther, Raams, Anja, Les, Clifford, Seboun, Eric, Jaspers, Nicolaas G.J., Beckmann, Jacques S., Jackson, Charles E., Scherer, Stephen W.

Get full text

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence by Cheung, Joseph, Estivill, Xavier, Khaja, Razi, MacDonald, Jeffrey R, Lau, Ken, Tsui, Lap-Chee, Scherer, Stephen W

Get full text

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies by Feuk, Lars, MacDonald, Jeffrey R, Tang, Terence, Carson, Andrew R, Li, Martin, Rao, Girish, Khaja, Razi, Scherer, Stephen W

Get full text

Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum by Pang, Andy Wing Chun, MacDonald, Jeffrey R, Yuen, Ryan K C, Hayes, Vanessa M, Scherer, Stephen W

Get full text

Human Chromosome 7: DNA Sequence and Biology by Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Henry H. Q. Heng, Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Gail A. P. Bruns, Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Elizabeth J. T. Winsor, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee

Get full text

Molecular characterization of a t(2;7) translocation linking CDK6 to the IGK locus in CD5− monoclonal B-cell lymphocytosis by Parker, Edward, MacDonald, Jeffrey R, Wang, Chen

Get full text