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Items: 49

1.

What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening.

Nicholls SG, Etchegary H, Tessier L, Simmonds C, Potter BK, Brehaut JC, Pullman D, Hayeems RZ, Zelenietz S, Lamoureux M, Milburn J, Turner L, Chakraborty P, Wilson BJ.

Public Health Ethics. 2019 May 4;12(2):158-175. doi: 10.1093/phe/phz003. eCollection 2019 Jul.

2.

The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing.

Hayeems RZ, Luca S, Ungar WJ, Bhatt A, Chad L, Pullenayegum E, Meyn MS.

Genet Med. 2019 Jul 31. doi: 10.1038/s41436-019-0620-0. [Epub ahead of print]

PMID:
31363181
3.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Karaceper MD, Khangura SD, Wilson K, Coyle D, Brownell M, Davies C, Dodds L, Feigenbaum A, Fell DB, Grosse SD, Guttmann A, Hawken S, Hayeems RZ, Kronick JB, Laberge AM, Little J, Mhanni A, Mitchell JJ, Nakhla M, Potter M, Prasad C, Rockman-Greenberg C, Sparkes R, Stockler S, Ueda K, Vallance H, Wilson BJ, Chakraborty P, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN).

Orphanet J Rare Dis. 2019 Mar 22;14(1):70. doi: 10.1186/s13023-019-1001-0.

4.

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics.

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

Eur J Med Genet. 2019 May;62(5):350-356. doi: 10.1016/j.ejmg.2018.11.029. Epub 2018 Nov 29.

PMID:
30503855
5.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.

PMID:
30293988
6.

Genome-wide sequencing technologies: A primer for paediatricians.

Hayeems RZ, Boycott KM.

Paediatr Child Health. 2018 May;23(3):191-197. doi: 10.1093/pch/pxx152. Epub 2017 Dec 2.

7.

What's Involved with Wanting to Be Involved? Comparing Expectations for Public Engagement in Health Policy across Research and Care Contexts.

Barg CJ, Miller FA, Hayeems RZ, Bombard Y, Cressman C, Painter-Main M.

Healthc Policy. 2017 Nov;13(2):40-56.

8.

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.

9.

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.

10.

False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use.

Hayeems RZ, Miller FA, Vermeulen M, Potter BK, Chakraborty P, Davies C, Carroll JC, Ratjen F, Guttmann A.

Pediatrics. 2017 Nov;140(5). pii: e20170604. doi: 10.1542/peds.2017-0604. Epub 2017 Oct 12.

11.

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.

12.

Genetic Testing among Children in a Complex Care Program.

Oei K, Hayeems RZ, Ungar WJ, Cohn RD, Cohen E.

Children (Basel). 2017 May 22;4(5). pii: E42. doi: 10.3390/children4050042.

13.

Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.

Hayeems RZ, Miller FA, Barg CJ, Bombard Y, Carroll JC, Tam K, Kerr E, Chakraborty P, Potter BK, Patton S, Bytautas JP, Taylor L, Davies C, Milburn J, Price A, Gonska T, Keenan K, Ratjen F, Guttmann A.

J Pediatr. 2017 May;184:165-171.e1. doi: 10.1016/j.jpeds.2017.01.049. Epub 2017 Mar 6.

PMID:
28279431
14.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems RZ, Jain-Ghai S, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN).

Orphanet J Rare Dis. 2016 Dec 7;11(1):168.

15.

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
16.

Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story.

Hayeems RZ, Moore Hepburn C, Chakraborty P, Odame I, Clarke J, Miller FA, Brown AD.

Genet Med. 2017 Jun;19(6):625-627. doi: 10.1038/gim.2016.162. Epub 2016 Oct 20. No abstract available.

PMID:
27763632
17.

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.

Bombard Y, Miller FA, Barg CJ, Patton SJ, Carroll JC, Chakraborty P, Potter BK, Tam K, Taylor L, Kerr E, Davies C, Milburn J, Ratjen F, Guttmann A, Hayeems RZ.

Genet Med. 2017 Apr;19(4):403-411. doi: 10.1038/gim.2016.125. Epub 2016 Sep 8.

18.

Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.

Hayeems RZ, Miller FA, Barg CJ, Bombard Y, Kerr E, Tam K, Carroll JC, Potter BK, Chakraborty P, Davies C, Milburn J, Patton S, Bytautas JP, Taylor L, Price A, Gonska T, Keenan K, Ratjen F, Guttmann A.

Pediatrics. 2016 Sep;138(3). pii: e20161052. doi: 10.1542/peds.2016-1052. Epub 2016 Aug 2.

19.

Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.

Hayeems RZ, Miller FA, Barg CJ, Bombard Y, Cressman C, Painter-Main M, Wilson B, Little J, Allanson J, Avard D, Giguere Y, Chakraborty P, Carroll JC.

Pediatrics. 2016 Jun;137(6). pii: e20154143. doi: 10.1542/peds.2015-4143. Epub 2016 May 17.

20.

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.

21.

Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study.

Hayeems RZ, Campitelli M, Ma X, Huang T, Walker M, Guttmann A.

CMAJ Open. 2015 Apr 2;3(2):E236-43. doi: 10.9778/cmajo.20140110. eCollection 2015 Apr-Jun.

22.

Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling.

Hayeems RZ, Babul-Hirji R, Hoang N, Weksberg R, Shuman C.

J Genet Couns. 2016 Apr;25(2):298-304. doi: 10.1007/s10897-015-9871-3. Epub 2015 Aug 12.

PMID:
26259530
23.

Public Perceptions of the Benefits and Risks of Newborn Screening.

Miller FA, Hayeems RZ, Bombard Y, Cressman C, Barg CJ, Carroll JC, Wilson BJ, Little J, Allanson J, Chakraborty P, Giguère Y, Regier DA.

Pediatrics. 2015 Aug;136(2):e413-23. doi: 10.1542/peds.2015-0518. Epub 2015 Jul 13.

24.

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
25.

Health system strategies supporting transition to adult care.

Hepburn CM, Cohen E, Bhawra J, Weiser N, Hayeems RZ, Guttmann A.

Arch Dis Child. 2015 Jun;100(6):559-64. doi: 10.1136/archdischild-2014-307320. Epub 2015 Feb 16.

26.

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Hayeems RZ, Hoang N, Chenier S, Stavropoulos DJ, Pu S, Weksberg R, Shuman C.

Eur J Hum Genet. 2015 Sep;23(9):1135-41. doi: 10.1038/ejhg.2014.260. Epub 2014 Dec 10.

27.

Stakeholder attitudes towards the role and application of informed consent for newborn bloodspot screening: a study protocol.

Nicholls SG, Tessier L, Etchegary H, Brehaut JC, Potter BK, Hayeems RZ, Chakraborty P, Marcadier J, Milburn J, Pullman D, Turner L, Wilson BJ.

BMJ Open. 2014 Nov 24;4(11):e006782. doi: 10.1136/bmjopen-2014-006782.

28.

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
29.

Public views on participating in newborn screening using genome sequencing.

Bombard Y, Miller FA, Hayeems RZ, Barg C, Cressman C, Carroll JC, Wilson BJ, Little J, Avard D, Painter-Main M, Allanson J, Giguere Y, Chakraborty P.

Eur J Hum Genet. 2014 Nov;22(11):1248-54. doi: 10.1038/ejhg.2014.22. Epub 2014 Feb 19.

30.

Primary care role in expanded newborn screening: After the heel prick test.

Hayeems RZ, Miller FA, Carroll JC, Little J, Allanson J, Bytautas JP, Chakraborty P, Wilson BJ.

Can Fam Physician. 2013 Aug;59(8):861-8.

31.

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care.

Miller FA, Hayeems RZ, Bytautas JP, Bedard PL, Ernst S, Hirte H, Hotte S, Oza A, Razak A, Welch S, Winquist E, Dancey J, Siu LL.

Eur J Hum Genet. 2014 Mar;22(3):391-5. doi: 10.1038/ejhg.2013.158. Epub 2013 Jul 17.

32.

Does a duty of disclosure foster special treatment of genetic research participants?

Hayeems RZ, Miller FA, Bytautas JP, Li L.

J Genet Couns. 2013 Oct;22(5):654-61. doi: 10.1007/s10897-013-9597-z. Epub 2013 May 17.

PMID:
23681280
33.

Expectations and values about expanded newborn screening: a public engagement study.

Hayeems RZ, Miller FA, Bombard Y, Avard D, Carroll J, Wilson B, Little J, Chakraborty P, Bytautas J, Giguere Y, Allanson J, Axler R.

Health Expect. 2015 Jun;18(3):419-29. doi: 10.1111/hex.12047. Epub 2013 Feb 1.

34.

One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants.

Miller FA, Hayeems RZ, Li L, Bytautas JP.

Eur J Hum Genet. 2012 Aug;20(8):837-43. doi: 10.1038/ejhg.2012.24. Epub 2012 Feb 15.

35.

Citizens' values regarding research with stored samples from newborn screening in Canada.

Bombard Y, Miller FA, Hayeems RZ, Carroll JC, Avard D, Wilson BJ, Little J, Bytautas JP, Allanson J, Axler R, Giguere Y, Chakraborty P.

Pediatrics. 2012 Feb;129(2):239-47. doi: 10.1542/peds.2011-2572. Epub 2012 Jan 16.

PMID:
22250019
36.

Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.

Bombard Y, Miller FA, Hayeems RZ, Wilson BJ, Carroll JC, Paynter M, Little J, Allanson J, Bytautas JP, Chakraborty P.

Eur J Hum Genet. 2012 May;20(5):498-504. doi: 10.1038/ejhg.2011.188. Epub 2011 Nov 9.

37.

What does 'respect for persons' require? Attitudes and reported practices of genetics researchers in informing research participants about research.

Miller FA, Hayeems RZ, Li L, Bytautas JP.

J Med Ethics. 2012 Jan;38(1):48-52. doi: 10.1136/jme.2010.041350. Epub 2011 Jun 17.

PMID:
21685149
38.

Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results.

Hayeems RZ, Miller FA, Li L, Bytautas JP.

Eur J Hum Genet. 2011 Jul;19(7):740-7. doi: 10.1038/ejhg.2011.34. Epub 2011 Mar 16.

39.

What is a meaningful result? Disclosing the results of genomic research in autism to research participants.

Miller FA, Hayeems RZ, Bytautas JP.

Eur J Hum Genet. 2010 Aug;18(8):867-71. doi: 10.1038/ejhg.2010.34. Epub 2010 Mar 17.

40.

Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.

Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM.

Eur J Hum Genet. 2010 Jul;18(7):751-60. doi: 10.1038/ejhg.2010.13. Epub 2010 Mar 3. Review.

41.

Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

Miller FA, Paynter M, Hayeems RZ, Little J, Carroll JC, Wilson BJ, Allanson J, Bytautas JP, Chakraborty P.

Eur J Hum Genet. 2010 Mar;18(3):303-8. doi: 10.1038/ejhg.2009.173. Epub 2009 Oct 7.

42.

Clinical obligations and public health programmes: healthcare provider reasoning about managing the incidental results of newborn screening.

Miller FA, Hayeems RZ, Bombard Y, Little J, Carroll JC, Wilson B, Allanson J, Paynter M, Bytautas JP, Christensen R, Chakraborty P.

J Med Ethics. 2009 Oct;35(10):626-34. doi: 10.1136/jme.2009.030346.

PMID:
19793944
43.

Consent for newborn screening: the attitudes of health care providers.

Miller FA, Hayeems RZ, Carroll JC, Wilson B, Little J, Allanson J, Bytautas JP, Paynter M, Christensen R, Chaktraborty P.

Public Health Genomics. 2010;13(3):181-90. doi: 10.1159/000240966. Epub 2009 Sep 22.

PMID:
19776551
44.

The expansion of newborn screening: is reproductive benefit an appropriate pursuit?

Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM, Cornel MC, Borry P.

Nat Rev Genet. 2009 Oct;10(10):666-7. doi: 10.1038/nrg2666. No abstract available.

PMID:
19763150
45.

Informing parents about expanded newborn screening: influences on provider involvement.

Hayeems RZ, Miller FA, Little J, Carroll JC, Allanson J, Chakraborty P, Wilson BJ, Bytautas JP, Christensen RJ.

Pediatrics. 2009 Sep;124(3):950-8. doi: 10.1542/peds.2008-3148. Epub 2009 Aug 10.

PMID:
19706578
46.

Carrier detection and clinical uncertainty: the case for public health ethics.

Miller FA, Hayeems RZ, Robert JS.

Am J Public Health. 2009 Aug;99(8):1349-50. doi: 10.2105/AJPH.2009.162008. Epub 2009 Jun 18. No abstract available.

47.

Questioning the consensus: managing carrier status results generated by newborn screening.

Miller FA, Robert JS, Hayeems RZ.

Am J Public Health. 2009 Feb;99(2):210-5. doi: 10.2105/AJPH.2008.136614. Epub 2008 Dec 4.

48.

A systematic review of the effects of disclosing carrier results generated through newborn screening.

Hayeems RZ, Bytautas JP, Miller FA.

J Genet Couns. 2008 Dec;17(6):538-49. doi: 10.1007/s10897-008-9180-1. Epub 2008 Oct 28. Review.

PMID:
18956236
49.

How patients experience progressive loss of visual function: a model of adjustment using qualitative methods.

Hayeems RZ, Geller G, Finkelstein D, Faden RR.

Br J Ophthalmol. 2005 May;89(5):615-20.

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