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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.

The effect of trabeculectomy on contrast sensitivity, corneal topography and aberrations.

Abolbashari F, Ehsaei A, Daneshvar R, Sharif NM, Gholami A, Monfared N, Ahmadi Hosseini SM.

Int Ophthalmol. 2017 Dec 22. doi: 10.1007/s10792-017-0808-8. [Epub ahead of print]

PMID:
29274024
3.

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

Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S.

NPJ Genom Med. 2017 May 26;2:19. doi: 10.1038/s41525-017-0021-8. eCollection 2017.

4.

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ.

Eur J Hum Genet. 2017 Dec;25(12):1303-1312. doi: 10.1038/s41431-017-0020-3. Epub 2017 Nov 20.

PMID:
29158552
5.

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.

6.

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.

Albanyan S, Al Teneiji A, Monfared N, Mercimek-Mahmutoglu S.

Am J Med Genet A. 2017 Jun;173(6):1640-1643. doi: 10.1002/ajmg.a.38127. Epub 2017 Mar 23.

PMID:
28332767
7.

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
8.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

9.

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Lionel AC, Monfared N, Scherer SW, Marshall CR, Mercimek-Mahmutoglu S.

Am J Med Genet A. 2016 Sep;170(9):2421-5. doi: 10.1002/ajmg.a.37802. Epub 2016 Jun 17. Review.

PMID:
27311965
10.

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.

11.

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

Bowdin SC, Hayeems RZ, Monfared N, Cohn RD, Meyn MS.

Clin Genet. 2016 Jan;89(1):10-9. doi: 10.1111/cge.12579. Epub 2015 Mar 24. Review.

PMID:
25813238
12.

A Multi-Year Aerosol Characterization for the Greater Tehran Area Using Satellite, Surface, and Modeling Data.

Crosbie E, Sorooshian A, Monfared NA, Shingler T, Esmaili O.

Atmosphere (Basel). 2014 Apr 4;5(2):178-197.

13.

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
14.

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
15.

Genetic variation in healthy oldest-old.

Halaschek-Wiener J, Amirabbasi-Beik M, Monfared N, Pieczyk M, Sailer C, Kollar A, Thomas R, Agalaridis G, Yamada S, Oliveira L, Collins JA, Meneilly G, Marra MA, Madden KM, Le ND, Connors JM, Brooks-Wilson AR.

PLoS One. 2009 Aug 14;4(8):e6641. doi: 10.1371/journal.pone.0006641.

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