Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

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.

J Med Genet ; 56(12): 809-817, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31515274

2.

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.

Genet Med ; 20(4): 435-443, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-28771251

3.

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.

Am J Bioeth ; 23(4): 74-77, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-37011345

4.

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.

Proc Natl Acad Sci U S A ; 111(52): E5716-23, 2014 Dec 30.

Artigo em Inglês | MEDLINE | ID: mdl-25512545

5.

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.

PLoS Biol ; 11(11): e1001699, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-24223516

6.

Response.

Wada, Kyoko; Szego, Michael J.

Gastrointest Endosc ; 91(2): 453-454, 2020 02.

Artigo em Inglês | MEDLINE | ID: mdl-32036949

7.

Revisiting code status in patients undergoing GI endoscopy with a "do not resuscitate" order.

Wada, Kyoko; Szego, Michael J.

Gastrointest Endosc ; 89(2): 380-382, 2019 02.

Artigo em Inglês | MEDLINE | ID: mdl-30528884

8.

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.

Front Genet ; 12: 725850, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-34276804

9.

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.

Front Genet ; 12: 535340, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33868358

10.

Predictive genomic testing of children for adult onset disorders: a Canadian perspective.

Szego, Michael J; Meyn, M Stephen; Anderson, James A; Hayeems, Robin; Shuman, Cheryl; Monfared, Nasim; Bowdin, Sarah; Shaul, Randi Zlotnik.

Am J Bioeth ; 14(3): 19-21, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-24592833

11.

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.

Stem Cell Reports ; 13(6): 1126-1141, 2019 12 10.

Artigo em Inglês | MEDLINE | ID: mdl-31813827

12.

Organelle transplantation should be legalized in Canada.

Szego, Michael J.

J Obstet Gynaecol Can ; 33(4): 329, 2011 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-21851763

13.

Author Correction: Please give me a copy of my child's raw genomic data.

Chad, Lauren; Szego, Michael J.

NPJ Genom Med ; 6(1): 26, 2021 Mar 23.

Artigo em Inglês | MEDLINE | ID: mdl-33758185

14.

Please give me a copy of my child's raw genomic data.

Chad, Lauren; Szego, Michael J.

NPJ Genom Med ; 6(1): 15, 2021 Feb 17.

Artigo em Inglês | MEDLINE | ID: mdl-33597540

15.

Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.

Szego, Michael J; Zawati, Ma'n H.

J Can Acad Child Adolesc Psychiatry ; 25(2): 116-21, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-27274747

16.

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.

NPJ Genom Med ; 12016 Jan 13.

Artigo em Inglês | MEDLINE | ID: mdl-28567303

17.

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.

PLoS One ; 8(2): e58023, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23469133

18.

Building trust in 21st century genomics.

Szego, Michael J; Buchanan, Janet A; Scherer, Stephen W.

G3 (Bethesda) ; 3(8): 1209-11, 2013 Aug 07.

Artigo em Inglês | MEDLINE | ID: mdl-23926223

19.

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, Merrill C; Penkowa, Milena; Rolph, Michael S; Sottosanto, Jordan; St-Arnaud, Rene; Szego, Michael J; Twell, David; Wang, Charles.

Biol Direct ; 1: 27, 2006 Sep 07.

Artigo em Inglês | MEDLINE | ID: mdl-16959036

20.

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.

Hum Mol Genet ; 14(7): 913-23, 2005 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-15703187

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