Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate
Caulfield, Timothy, Evans, Jim, McGuire, Amy, McCabe, Christopher, Bubela, Tania, Cook-Deegan, Robert, Fishman, Jennifer, Hogarth, Stuart, Miller, Fiona A, Ravitsky, Vardit, Biesecker, Barbara, Borry, Pascal, Cho, Mildred K, Carroll, June C, Etchegary, Holly, Joly, Yann, Kato, Kazuto, Lee, Sandra Soo-Jin, Rothenberg, Karen, Sankar, Pamela, Szego, Michael J, Ossorio, Pilar, Pullman, Daryl, Rousseau, Francois, Ungar, Wendy J, Wilson, Brenda
Published in PLoS biology (01.11.2013)
Published in PLoS biology (01.11.2013)
Get full text
Journal Article
STAT3 promotes survival of mutant photoreceptors in inherited photoreceptor degeneration models
Jiang, Ke, Wright, Katherine L, Zhu, Ping, Szego, Michael J, Bramall, Alexa N, Hauswirth, William W, Li, Qiuhong, Egan, Sean E, McInnes, Roderick R
Published in Proceedings of the National Academy of Sciences - PNAS (30.12.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (30.12.2014)
Get full text
Journal Article
Endothelin-2-mediated protection of mutant photoreceptors in inherited photoreceptor degeneration
Bramall, Alexa N, Szego, Michael J, Pacione, Laura R, Chang, Inik, Diez, Eduardo, D'Orleans-Juste, Pedro, Stewart, Duncan J, Hauswirth, William W, Yanagisawa, Masashi, McInnes, Roderick R
Published in PloS one (28.02.2013)
Published in PloS one (28.02.2013)
Get full text
Journal Article
Corrigendum: Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility
Beauvais, Michael J. S., Thorogood, Adrian M., Szego, Michael J., Sénécal, Karine, Zawati, Ma'n H., Knoppers, Bartha Maria
Published in Frontiers in genetics (02.07.2021)
Published in Frontiers in genetics (02.07.2021)
Get full text
Journal Article
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
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
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
Get full text
Journal Article
Genomic architecture of autism from comprehensive whole-genome sequence annotation
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.
Published in Cell (10.11.2022)
Published in Cell (10.11.2022)
Get full text
Journal Article
Impact of DNA source on genetic variant detection from human whole-genome sequencing data
Trost, Brett, Walker, Susan, Haider, Syed A, Sung, Wilson W L, Pereira, Sergio, Phillips, Charly L, Higginbotham, Edward J, Strug, Lisa J, Nguyen, Charlotte, Raajkumar, Akshaya, Szego, Michael J, Marshall, Christian R, Scherer, Stephen W
Published in Journal of medical genetics (01.12.2019)
Published in Journal of medical genetics (01.12.2019)
Get full text
Journal Article
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine
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, 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
Published in Npj genomic medicine (13.01.2016)
Published in Npj genomic medicine (13.01.2016)
Get full text
Journal Article
Ethics Debriefs and Moral Distress: What are we Doing?
de Bie, A. Lee, Abdool, Steve, Butler, Jeremy, Campbell, Alexandra, Hassanein, Maram, Hillman, Sean, Makkar, Juhee, Maurice, Rochelle, Robertson, Jamie, Szego, Michael J., Langlois, Dave
Published in American journal of bioethics (03.04.2023)
Published in American journal of bioethics (03.04.2023)
Get full text
Journal Article
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
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
Published in Canadian Medical Association journal (CMAJ) (05.02.2018)
Published in Canadian Medical Association journal (CMAJ) (05.02.2018)
Get full text
Journal Article
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation
Hildebrandt, Matthew R., Reuter, Miriam S., Wei, Wei, Tayebi, Naeimeh, Liu, Jiajie, Sharmin, Sazia, Mulder, Jaap, Lesperance, L. Stephen, Brauer, Patrick M., Mok, Rebecca S.F., Kinnear, Caroline, Piekna, Alina, Romm, Asli, Howe, Jennifer, Pasceri, Peter, Meng, Guoliang, Rozycki, Matthew, Rodrigues, Deivid C., Martinez, Elisa C., Szego, Michael J., Zúñiga-Pflücker, Juan C., Anderson, Michele K., Prescott, Steven A., Rosenblum, Norman D., Kamath, Binita M., Mital, Seema, Scherer, Stephen W., Ellis, James
Published in Stem cell reports (10.12.2019)
Published in Stem cell reports (10.12.2019)
Get full text
Journal Article
Natural antisense transcripts associated with genes involved in eye development
Alfano, Giovanna, Vitiello, Carmen, Caccioppoli, Cristina, Caramico, Tiziana, Carola, Antonietta, Szego, Michael J., McInnes, Roderick R., Auricchio, Alberto, Banfi, Sandro
Published in Human molecular genetics (01.04.2005)
Published in Human molecular genetics (01.04.2005)
Get full text
Journal Article
Generalization of DNA microarray dispersion properties: microarray equivalent of t-distribution
Novak, Jaroslav P, Kim, Seon-Young, Xu, Jun, Modlich, Olga, Volsky, David J, Honys, David, Slonczewski, Joan L, Bell, Douglas A, Blattner, Fred R, Blumwald, Eduardo, Boerma, Marjan, Cosio, Manuel, Gatalica, Zoran, Hajduch, Marian, Hidalgo, Juan, McInnes, Roderick R, Miller, 3rd, Merrill C, Penkowa, Milena, Rolph, Michael S, Sottosanto, Jordan, St-Arnaud, Rene, Szego, Michael J, Twell, David, Wang, Charles
Published in Biology direct (07.09.2006)
Published in Biology direct (07.09.2006)
Get full text
Journal Article