| Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ... Nature neuroscience 20 (4), 602-611, 2017 | 764 | 2017 |
| 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 | 519 | 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 | 370 | 2016 |
| Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations LR Pacione, MJ Szego, S Ikeda, PM Nishina, RR McInnes Annual review of neuroscience 26 (1), 657-700, 2003 | 177 | 2003 |
| Natural antisense transcripts associated with genes involved in eye development G Alfano, C Vitiello, C Caccioppoli, T Caramico, A Carola, MJ Szego, ... Human molecular genetics 14 (7), 913-923, 2005 | 148* | 2005 |
| Reflections on the cost of" low-cost" whole genome sequencing: framing the health policy debate T Caulfield, J Evans, A McGuire, C McCabe, T Bubela, R Cook-Deegan, ... PLoS biology 11 (11), e1001699, 2013 | 85 | 2013 |
| Genomic architecture of autism from comprehensive whole-genome sequence annotation B Trost, B Thiruvahindrapuram, AJS Chan, W Engchuan, ... Cell 185 (23), 4409-4427. e18, 2022 | 84 | 2022 |
| 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 | 81 | 2017 |
| The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ... Cmaj 190 (5), E126-E136, 2018 | 64 | 2018 |
| 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 | 52 | 2015 |
| STAT3 promotes survival of mutant photoreceptors in inherited photoreceptor degeneration models K Jiang, KL Wright, P Zhu, MJ Szego, AN Bramall, WW Hauswirth, Q Li, ... Proceedings of the National Academy of Sciences 111 (52), E5716-E5723, 2014 | 39 | 2014 |
| Impact of DNA source on genetic variant detection from human whole-genome sequencing data B Trost, S Walker, SA Haider, WWL Sung, S Pereira, CL Phillips, ... Journal of medical genetics 56 (12), 809-817, 2019 | 36 | 2019 |
| Precision health resource of control iPSC lines for versatile multilineage differentiation MR Hildebrandt, MS Reuter, W Wei, N Tayebi, J Liu, S Sharmin, J Mulder, ... Stem cell reports 13 (6), 1126-1141, 2019 | 35 | 2019 |
| Endothelin-2-mediated protection of mutant photoreceptors in inherited photoreceptor degeneration AN Bramall, MJ Szego, LR Pacione, I Chang, E Diez, P D'Orleans-Juste, ... PloS one 8 (2), e58023, 2013 | 35 | 2013 |
| Whole genome sequencing as a genetic test for autism spectrum disorder: from bench to bedside and then back again MJ Szego, HZ Ma’n Journal of the Canadian Academy of Child and Adolescent Psychiatry 25 (2), 116, 2016 | 17 | 2016 |
| Views from the clinic: healthcare provider perspectives on whole genome sequencing in paediatrics MJ Szego, MS Meyn, C Shuman, RZ Shaul, JA Anderson, S Bowdin, ... European Journal of Medical Genetics 62 (5), 350-356, 2019 | 16 | 2019 |
| Generalization of DNA microarray dispersion properties: microarray equivalent of t-distribution JP Novak, SY Kim, J Xu, O Modlich, DJ Volsky, D Honys, JL Slonczewski, ... Biology direct 1, 1-24, 2006 | 16 | 2006 |
| Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome CR Marshall, SA Farrell, D Cushing, T Paton, TL Stockley, ... BMC genomics 16, 1-7, 2015 | 13 | 2015 |
| Predictive genomic testing of children for adult onset disorders: a Canadian perspective MJ Szego, MS Meyn, JA Anderson, R Hayeems, C Shuman, N Monfared, ... The American Journal of Bioethics 14 (3), 19-21, 2014 | 12 | 2014 |
| Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells R Pardossi-Piquard, F Chen, NF Silva-Gagliardi, M Szego, R McInnes, ... Biochemistry 46 (48), 13704-13710, 2007 | 9 | 2007 |
