Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 43

1.

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH; NIH-Clinical Genome Resource Consortium .

Circulation. 2018 Jun 29. pii: CIRCULATIONAHA.118.035070. doi: 10.1161/CIRCULATIONAHA.118.035070. [Epub ahead of print]

2.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

PMID:
29453418
3.

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.

4.

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.

5.

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
6.

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Costain G, Kannu P, Bowdin S.

Eur J Med Genet. 2018 Mar;61(3):125-129. doi: 10.1016/j.ejmg.2017.11.002. Epub 2017 Nov 10.

PMID:
29133209
7.

Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy.

Mathew J, Zahavich L, Lafreniere-Roula M, Wilson J, George K, Benson L, Bowdin S, Mital S.

Clin Genet. 2018 Feb;93(2):310-319. doi: 10.1111/cge.13157. Epub 2017 Dec 26.

PMID:
29053178
8.

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.

9.

Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease.

Zahavich L, Bowdin S, Mital S.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001581. doi: 10.1161/CIRCGENETICS.116.001581. No abstract available.

PMID:
28473349
10.

Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

Ouellette AC, Mathew J, Manickaraj AK, Manase G, Zahavich L, Wilson J, George K, Benson L, Bowdin S, Mital S.

Clin Genet. 2018 Jan;93(1):33-40. doi: 10.1111/cge.13024. Epub 2017 Aug 3.

PMID:
28369760
11.

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
12.

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.

13.

FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, Gong SG.

Am J Med Genet A. 2016 Dec;170(12):3215-3221. doi: 10.1002/ajmg.a.37862. Epub 2016 Aug 2.

14.

The clinical utility of next-generation sequencing in the neonatal intensive care unit.

Bowdin SC.

CMAJ. 2016 Aug 9;188(11):786-7. doi: 10.1503/cmaj.160490. Epub 2016 May 30. No abstract available.

15.

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.

16.

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection.

Bradley TJ, Bowdin SC, Morel CF, Pyeritz RE.

Can J Cardiol. 2016 Jan;32(1):86-99. doi: 10.1016/j.cjca.2015.11.007. Epub 2015 Nov 14. Review.

PMID:
26724513
17.

Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada.

Bradley TJ, Bowdin SC.

Can J Cardiol. 2016 Jan;32(1):8-12. doi: 10.1016/j.cjca.2015.10.003. Epub 2015 Oct 22. Review.

PMID:
26621141
18.

Genetic Testing in Thoracic Aortic Disease--When, Why, and How?

Bowdin SC, Laberge AM, Verstraeten A, Loeys BL.

Can J Cardiol. 2016 Jan;32(1):131-4. doi: 10.1016/j.cjca.2015.09.018. Epub 2015 Sep 30.

PMID:
26604122
19.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

20.

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Atik T, Koparir A, Bademci G, Foster J 2nd, Altunoglu U, Mutlu GY, Bowdin S, Elcioglu N, Tayfun GA, Atik SS, Ozen M, Ozkinay F, Alanay Y, Kayserili H, Thiel S, Tekin M.

Orphanet J Rare Dis. 2015 Sep 30;10:128. doi: 10.1186/s13023-015-0345-3.

21.

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Chaudhry A, Sabatini P, Han L, Ray PN, Forrest C, Bowdin S.

Am J Med Genet A. 2015 Nov;167A(11):2544-7. doi: 10.1002/ajmg.a.37218. Epub 2015 Jun 22.

PMID:
26097063
22.

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S.

Genet Med. 2016 Feb;18(2):189-98. doi: 10.1038/gim.2015.60. Epub 2015 May 21.

23.

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
24.

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA.

Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4.

PMID:
25223753
25.

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
26.

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Bowdin S, Ray PN, Cohn RD, Meyn MS.

Hum Mutat. 2014 May;35(5):513-9. doi: 10.1002/humu.22536. Epub 2014 Apr 7. Review.

PMID:
24599881
27.

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
28.

Loeys-Dietz syndrome: a primer for diagnosis and management.

MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd.

Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Review.

29.

Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?

Morgenstern DA, Soh SY, Stavropoulos DJ, Bowdin S, Baruchel S, Malkin D, Meyn MS, Irwin MS.

J Pediatr Hematol Oncol. 2014 Apr;36(3):e193-6. doi: 10.1097/MPH.0b013e3182a8f25d.

PMID:
24276038
30.

Danon Disease Due to a Novel LAMP2 Microduplication.

Lines MA, Hewson S, Halliday W, Sabatini PJ, Stockley T, Dipchand AI, Bowdin S, Siriwardena K.

JIMD Rep. 2014;14:11-6. doi: 10.1007/8904_2013_277. Epub 2013 Nov 13.

31.

PhenoTips: patient phenotyping software for clinical and research use.

Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M.

Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24.

PMID:
23636887
32.
33.

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.

Fenwick AL, Bowdin SC, Klatt RE, Wilkie AO.

BMC Med Genet. 2011 Sep 23;12:122. doi: 10.1186/1471-2350-12-122.

34.

Cherubism.

Baskin B, Bowdin S, Ray PN.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Feb 26 [updated 2011 Sep 1].

35.

Mosaic trisomy 1q: The longest surviving case.

Patel C, Hardy G, Cox P, Bowdin S, McKeown C, Russell AB.

Am J Med Genet A. 2009 Aug;149A(8):1795-800. doi: 10.1002/ajmg.a.32959.

PMID:
19610079
36.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER.

Hum Reprod. 2009 Mar;24(3):741-7. doi: 10.1093/humrep/den406. Epub 2008 Dec 10.

PMID:
19073614
37.

Pregnancy and perinatal outcomes after assisted reproduction: a comparative study.

Allen C, Bowdin S, Harrison RF, Sutcliffe AG, Brueton L, Kirby G, Kirkman-Brown J, Barrett C, Reardon W, Maher E.

Ir J Med Sci. 2008 Sep;177(3):233-41. doi: 10.1007/s11845-008-0172-9. Epub 2008 Jun 3.

PMID:
18521653
38.

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.

Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER.

Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1295-7. doi: 10.1002/ajmg.b.30729.

PMID:
18314872
39.

A survey of assisted reproductive technology births and imprinting disorders.

Bowdin S, Allen C, Kirby G, Brueton L, Afnan M, Barratt C, Kirkman-Brown J, Harrison R, Maher ER, Reardon W.

Hum Reprod. 2007 Dec;22(12):3237-40. Epub 2007 Oct 5.

PMID:
17921133
40.

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

Bowdin S, Phelan E, Watson R, McCreery KM, Reardon W.

Clin Dysmorphol. 2007 Jan;16(1):21-5.

PMID:
17159510
41.

Assisted reproductive therapies and imprinting disorders--a preliminary British survey.

Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, Clayton-Smith J, Brueton LA, Bannister W, Maher ER.

Hum Reprod. 2006 Apr;21(4):1009-11. Epub 2005 Dec 16.

PMID:
16361294
42.

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.

Eur J Hum Genet. 2005 Sep;13(9):1025-32.

43.

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).

Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM.

J Med Genet. 2003 Jan;40(1):62-4. No abstract available. Erratum in: J Med Genet. 2003 Apr;40(4):304.

Supplemental Content

Loading ...
Support Center