Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 15

1.

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

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

2.

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

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

3.

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ.

J Med Ethics. 2017 Aug;43(8):535-539. doi: 10.1136/medethics-2016-103564. Epub 2016 Nov 25.

PMID:
27888232
4.

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

Szego MJ, Zawati MH.

J Can Acad Child Adolesc Psychiatry. 2016 Spring;25(2):116-21. Epub 2016 May 1.

5.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

6.

STAT3 promotes survival of mutant photoreceptors in inherited photoreceptor degeneration models.

Jiang K, Wright KL, Zhu P, Szego MJ, Bramall AN, Hauswirth WW, Li Q, Egan SE, McInnes RR.

Proc Natl Acad Sci U S A. 2014 Dec 30;111(52):E5716-23. doi: 10.1073/pnas.1411248112. Epub 2014 Dec 15.

7.

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.

Anderson JA, Hayeems RZ, Shuman C, Szego MJ, Monfared N, Bowdin S, Zlotnik Shaul R, Meyn MS.

Clin Genet. 2015 Apr;87(4):301-10. doi: 10.1111/cge.12460. Epub 2014 Oct 7. Review.

PMID:
25046648
8.

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

Szego MJ, Meyn MS, Anderson JA, Hayeems R, Shuman C, Monfared N, Bowdin S, Shaul RZ.

Am J Bioeth. 2014;14(3):19-21. doi: 10.1080/15265161.2013.879960. No abstract available.

PMID:
24592833
9.

Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate.

Caulfield T, Evans J, McGuire A, McCabe C, Bubela T, Cook-Deegan R, Fishman J, Hogarth S, Miller FA, Ravitsky V, Biesecker B, Borry P, Cho MK, Carroll JC, Etchegary H, Joly Y, Kato K, Lee SS, Rothenberg K, Sankar P, Szego MJ, Ossorio P, Pullman D, Rousseau F, Ungar WJ, Wilson B.

PLoS Biol. 2013 Nov;11(11):e1001699. doi: 10.1371/journal.pbio.1001699. Epub 2013 Nov 5.

10.

Building trust in 21st century genomics.

Szego MJ, Buchanan JA, Scherer SW.

G3 (Bethesda). 2013 Aug 7;3(8):1209-11. doi: 10.1534/g3.113.007690. No abstract available.

11.

Endothelin-2-mediated protection of mutant photoreceptors in inherited photoreceptor degeneration.

Bramall AN, Szego MJ, Pacione LR, Chang I, Diez E, D'Orleans-Juste P, Stewart DJ, Hauswirth WW, Yanagisawa M, McInnes RR.

PLoS One. 2013;8(2):e58023. doi: 10.1371/journal.pone.0058023. Epub 2013 Feb 28.

12.

Organelle transplantation should be legalized in Canada.

Szego MJ.

J Obstet Gynaecol Can. 2011 Apr;33(4):329. doi: 10.1016/S1701-2163(16)34849-6. No abstract available.

PMID:
21851763
13.

Generalization of DNA microarray dispersion properties: microarray equivalent of t-distribution.

Novak JP, Kim SY, Xu J, Modlich O, Volsky DJ, Honys D, Slonczewski JL, Bell DA, Blattner FR, Blumwald E, Boerma M, Cosio M, Gatalica Z, Hajduch M, Hidalgo J, McInnes RR, Miller MC 3rd, Penkowa M, Rolph MS, Sottosanto J, St-Arnaud R, Szego MJ, Twell D, Wang C.

Biol Direct. 2006 Sep 7;1:27.

14.

Natural antisense transcripts associated with genes involved in eye development.

Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, Szego MJ, McInnes RR, Auricchio A, Banfi S.

Hum Mol Genet. 2005 Apr 1;14(7):913-23. Epub 2005 Feb 9.

PMID:
15703187
15.

Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations.

Pacione LR, Szego MJ, Ikeda S, Nishina PM, McInnes RR.

Annu Rev Neurosci. 2003;26:657-700. Review.

PMID:
14527271

Supplemental Content

Loading ...
Support Center