| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 602 | 2018 |
| Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 400 | 2016 |
| Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care FA Miller, RZ Hayeems, JP Bytautas, PL Bedard, S Ernst, H Hirte, S Hotte, ... European Journal of Human Genetics 22 (3), 391-395, 2014 | 125 | 2014 |
| Health system strategies supporting transition to adult care CM Hepburn, E Cohen, J Bhawra, N Weiser, RZ Hayeems, A Guttmann Archives of disease in childhood 100 (6), 559-564, 2015 | 122 | 2015 |
| Newborn screening for cystic fibrosis PM Farrell, EH Mischler, Cystic Fibrosis Neonatal Screening Study Group Advances in pediatrics 39 (1), 35-70, 1992 | 112* | 1992 |
| How patients experience progressive loss of visual function: a model of adjustment using qualitative methods RZ Hayeems, G Geller, D Finkelstein, RR Faden British Journal of Ophthalmology 89 (5), 615-620, 2005 | 92 | 2005 |
| Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? JA Anderson, MS Meyn, C Shuman, RZ Shaul, LE Mantella, MJ Szego, ... Journal of Medical Ethics 43 (8), 535-539, 2017 | 91 | 2017 |
| The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease MS Reuter, RR Chaturvedi, E Liston, R Manshaei, RB Aul, S Bowdin, ... Genetics in Medicine 22 (6), 1015-1024, 2020 | 80 | 2020 |
| Experiences of caregivers of children with inherited metabolic diseases: a qualitative study S Siddiq, BJ Wilson, ID Graham, M Lamoureux, SD Khangura, K Tingley, ... Orphanet journal of rare diseases 11, 1-10, 2016 | 80 | 2016 |
| Genome sequencing as a diagnostic test in children with unexplained medical complexity G Costain, S Walker, M Marano, D Veenma, M Snell, M Curtis, S Luca, ... JAMA Network Open 3 (9), e2018109-e2018109, 2020 | 72 | 2020 |
| What is a meaningful result? Disclosing the results of genomic research in autism to research participants FA Miller, RZ Hayeems, JP Bytautas European Journal of Human Genetics 18 (8), 867-871, 2010 | 65 | 2010 |
| Public views on participating in newborn screening using genome sequencing Y Bombard, FA Miller, RZ Hayeems, C Barg, C Cressman, JC Carroll, ... European Journal of Human Genetics 22 (11), 1248-1254, 2014 | 64 | 2014 |
| Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening Y Bombard, FA Miller, RZ Hayeems, D Avard, BM Knoppers European Journal of Human Genetics 18 (7), 751-760, 2010 | 61 | 2010 |
| Clinical utility of genomic sequencing: a measurement toolkit RZ Hayeems, D Dimmock, D Bick, JW Belmont, RC Green, B Lanpher, ... NPJ genomic medicine 5 (1), 56, 2020 | 58 | 2020 |
| Predictive genetic testing for adult‐onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines JA Anderson, RZ Hayeems, C Shuman, MJ Szego, N Monfared, S Bowdin, ... Clinical genetics 87 (4), 301-310, 2015 | 57 | 2015 |
| The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine SC Bowdin, RZ Hayeems, N Monfared, RD Cohn, MS Meyn Clinical genetics 89 (1), 10-19, 2016 | 53 | 2016 |
| How digital tools can advance quality and equity in genomic medicine Y Bombard, RZ Hayeems Nature Reviews Genetics 21 (9), 505-506, 2020 | 52 | 2020 |
| Parents’ experience with pediatric microarray: transferrable lessons in the era of genomic counseling RZ Hayeems, R Babul-Hirji, N Hoang, R Weksberg, C Shuman Journal of genetic counseling 25 (2), 298-304, 2016 | 52 | 2016 |
| Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study I Cohn, TA Paton, CR Marshall, R Basran, DJ Stavropoulos, PN Ray, ... npj Genomic Medicine 2 (1), 19, 2017 | 50 | 2017 |
| Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study RZ Hayeems, M Campitelli, X Ma, T Huang, M Walker, A Guttmann Canadian Medical Association Open Access Journal 3 (2), E236-E243, 2015 | 49 | 2015 |
