Low number of mitochondrial pseudogenes in the chicken (Gallus gallus) nuclear genome: implications for molecular inference of population history and phylogenetics

Por Pereira, Sérgio L, Baker, Allan J
Publicado em 2004

The enigmatic monotypic crab plover Dromas ardeola is closely related to pratincoles and coursers (Aves, Charadriiformes, Glareolidae)

Por Pereira, Sergio L., Baker, Allan J.
Publicado em 2010

Phylogenetic relationships and divergence times of Charadriiformes genera: multigene evidence for the Cretaceous origin of at least 14 clades of shorebirds

Por Baker, Allan J, Pereira, Sérgio L, Paton, Tara A
Publicado em 2007

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Por Dinur Schejter, Yael, Ovadia, Adi, Alexandrova, Roumiana, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Manson, David E., Vincent, Ajoy, Merico, Daniele, Roifman, Chaim M.
Publicado no NPJ Genom Med (2017)

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

Por Fernandez, Bridget A, Green, Jane S, Bursey, Ford, Barrett, Brendan, MacMillan, Andrée, McColl, Sarah, Fernandez, Sara, Rahman, Proton, Mahoney, Krista, Pereira, Sergio L, Scherer, Stephen W, Boycott, Kym M, Woods, Michael O
Publicado em 2012

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Por Marshall, Christian R, Farrell, Sandra A, Cushing, Donna, Paton, Tara, Stockley, Tracy L, Stavropoulos, Dimitri J, Ray, Peter N, Szego, Michael, Lau, Lynette, Pereira, Sergio L, Cohn, Ronald D, Wintle, Richard F, Abuzenadah, Adel M, Abu-Elmagd, Muhammad, Scherer, Stephen W
Publicado no BMC Genomics (2015)

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

Por 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.
Publicado no Am J Hum Genet (2018)

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

Por 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.
Publicado no Nat Commun (2015)

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

Por Lok, Si, Paton, Tara A., Wang, Zhuozhi, Kaur, Gaganjot, Walker, Susan, Yuen, Ryan K. C., Sung, Wilson W. L., Whitney, Joseph, Buchanan, Janet A., Trost, Brett, Singh, Naina, Apresto, Beverly, Chen, Nan, Coole, Matthew, Dawson, Travis J., Ho, Karen, Hu, Zhizhou, Pullenayegum, Sanjeev, Samler, Kozue, Shipstone, Arun, Tsoi, Fiona, Wang, Ting, Pereira, Sergio L., Rostami, Pirooz, Ryan, Carol Ann, Tong, Amy Hin Yan, Ng, Karen, Sundaravadanam, Yogi, Simpson, Jared T., Lim, Burton K., Engstrom, Mark D., Dutton, Christopher J., Kerr, Kevin C. R., Franke, Maria, Rapley, William, Wintle, Richard F., Scherer, Stephen W.
Publicado no G3 (Bethesda) (2017)

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Por 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.
Publicado no CMAJ (2018)

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Por Yuen, Ryan KC, Merico, Daniele, Bookman, Matt, Howe, Jennifer L, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D’Abate, Lia, Chan, Ada JS, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson WL, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
Publicado no Nat Neurosci (2017)