The cycle of genome-directed medicine

por Buchanan, Janet A, Carson, Andrew R, Chitayat, David, Malkin, David, Meyn, M Stephen, Ray, Peter N, Shuman, Cheryl, Weksberg, Rosanna, Scherer, Stephen W
Publicado 2009

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

por Baskin, Berivan, Stavropoulos, Dimitri J, Rebeiro, Paige A, Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R, Lemire, Edmond G, Boycott, Kym M, Gibson, William, Ray, Peter N
Publicado 2014

RNAseq analysis for the diagnosis of muscular dystrophy

por Gonorazky, Hernan, Liang, Minggao, Cummings, Beryl, Lek, Monkol, Micallef, Johann, Hawkins, Cynthia, Basran, Raveen, Cohn, Ronald, Wilson, Michael D., MacArthur, Daniel, Marshall, Christian R., Ray, Peter N., Dowling, James J.
Publicado 2015

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

por Marshall, Christian R., Scherer, Stephen W., Zariwala, Maimoona A., Lau, Lynette, Paton, Tara A., Stockley, Tracy, Jobling, Rebekah K., Ray, Peter N., Knowles, Michael R., Hall, David A., Dell, Sharon D., Kim, Raymond H.
Publicado 2015

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

por Cohn, Iris, Paton, Tara A., Marshall, Christian R., Basran, Raveen, Stavropoulos, Dimitri J., Ray, Peter N., Monfared, Nasim, Hayeems, Robin Z., Meyn, M. Stephen, Bowdin, Sarah, Scherer, Stephen W., Cohn, Ronald D., Ito, Shinya
Publicado 2017

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 2015

Clinical and genetic study of hereditary spastic paraplegia in Canada

por Chrestian, Nicolas, Dupré, Nicolas, Gan-Or, Ziv, Szuto, Anna, Chen, Shiyi, Venkitachalam, Anil, Brisson, Jean-Denis, Warman-Chardon, Jodi, Ahmed, Sohnee, Ashtiani, Setareh, MacDonald, Heather, Mohsin, Noreen, Mourabit-Amari, Karim, Provencher, Pierre, Boycott, Kym M., Stavropoulos, Dimitri J., Dion, Patrick A., Ray, Peter N., Suchowersky, Oksana, Rouleau, Guy A., Yoon, Grace
Publicado 2016

Orkambi® and amplifier co‐therapy improves function from a rare CFTR mutation in gene‐edited cells and patient tissue

por Molinski, Steven V, Ahmadi, Saumel, Ip, Wan, Ouyang, Hong, Villella, Adriana, Miller, John P, Lee, Po‐Shun, Kulleperuma, Kethika, Du, Kai, Di Paola, Michelle, Eckford, Paul DW, Laselva, Onofrio, Huan, Ling Jun, Wellhauser, Leigh, Li, Ellen, Ray, Peter N, Pomès, Régis, Moraes, Theo J, Gonska, Tanja, Ratjen, Felix, Bear, Christine E
Publicado 2017

Research Ethics Recommendations for Whole-Genome Research: Consensus Statement

por Caulfield, Timothy, McGuire, Amy L, Cho, Mildred, Buchanan, Janet A, Burgess, Michael M, Danilczyk, Ursula, Diaz, Christina M, Fryer-Edwards, Kelly, Green, Shane K, Hodosh, Marc A, Juengst, Eric T, Kaye, Jane, Kedes, Laurence, Knoppers, Bartha Maria, Lemmens, Trudo, Meslin, Eric M, Murphy, Juli, Nussbaum, Robert L, Otlowski, Margaret, Pullman, Daryl, Ray, Peter N, Sugarman, Jeremy, Timmons, Michael
Publicado 2008

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Publicado 2018

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

por Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Publicado 2016

WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma

por Zhukova, Nataliya, Ramaswamy, Vijay, Remke, Marc, Martin, Dianna C, Castelo-Branco, Pedro, Zhang, Cindy H, Fraser, Michael, Tse, Ken, Poon, Raymond, Shih, David JH, Baskin, Berivan, Ray, Peter N, Bouffet, Eric, Dirks, Peter, von Bueren, Andre O, Pfaff, Elke, Korshunov, Andrey, Jones, David TW, Northcott, Paul A, Kool, Marcel, Pugh, Trevor J, Pomeroy, Scott L, Cho, Yoon-Jae, Pietsch, Torsten, Gessi, Marco, Rutkowski, Stefan, Bognár, Laszlo, Cho, Byung-Kyu, Eberhart, Charles G, Conter, Cecile Faure, Fouladi, Maryam, French, Pim J, Grajkowska, Wieslawa A, Gupta, Nalin, Hauser, Peter, Jabado, Nada, Vasiljevic, Alexandre, Jung, Shin, Kim, Seung-Ki, Klekner, Almos, Kumabe, Toshihiro, Lach, Boleslaw, Leonard, Jeffrey R, Liau, Linda M, Massimi, Luca, Pollack, Ian F, Ra, Young Shin, Rubin, Joshua B, Van Meir, Erwin G, Wang, Kyu-Chang, Weiss, William A, Zitterbart, Karel, Bristow, Robert G, Alman, Benjamin, Hawkins, Cynthia E, Malkin, David, Clifford, Steven C, Pfister, Stefan M, Taylor, Michael D, Tabori, Uri
Publicado 2014