| 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 | 585 | 2018 |
| Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome SM Hosseini, R Kim, S Udupa, G Costain, R Jobling, E Liston, SM Jamal, ... Circulation 138 (12), 1195-1205, 2018 | 330 | 2018 |
| Practical guidelines for managing adults with 22q11. 2 deletion syndrome WLA Fung, NJ Butcher, G Costain, DM Andrade, E Boot, EWC Chow, ... Genetics in Medicine 17 (8), 599-609, 2015 | 317 | 2015 |
| Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways CK Silversides, AC Lionel, G Costain, D Merico, O Migita, B Liu, T Yuen, ... Public Library of Science 8 (8), e1002843, 2012 | 201 | 2012 |
| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures AC Lionel, AK Vaags, D Sato, MJ Gazzellone, EB Mitchell, HY Chen, ... Human molecular genetics 22 (10), 2055-2066, 2013 | 190 | 2013 |
| A large data resource of genomic copy number variation across neurodevelopmental disorders M Zarrei, CL Burton, W Engchuan, EJ Young, EJ Higginbotham, ... NPJ genomic medicine 4 (1), 26, 2019 | 157 | 2019 |
| Delineating the 15q13. 3 microdeletion phenotype: a case series and comprehensive review of the literature C Lowther, G Costain, DJ Stavropoulos, R Melvin, CK Silversides, ... Genetics in Medicine 17 (2), 149-157, 2015 | 156 | 2015 |
| 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 | 153 | 2022 |
| Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing G Costain, R Jobling, S Walker, MS Reuter, M Snell, S Bowdin, RD Cohn, ... European Journal of Human Genetics 26 (5), 740-744, 2018 | 144 | 2018 |
| Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays G Costain, AC Lionel, D Merico, P Forsythe, K Russell, C Lowther, T Yuen, ... Human molecular genetics 22 (22), 4485-4501, 2013 | 143 | 2013 |
| Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ... Molecular psychiatry 26 (8), 4496-4510, 2021 | 129 | 2021 |
| Clinical application of targeted next-generation sequencing panels and whole exome sequencing in childhood epilepsy G Costain, D Cordeiro, D Matviychuk, S Mercimek-Andrews Neuroscience 418, 291-310, 2019 | 104 | 2019 |
| Rare genome-wide copy number variation and expression of schizophrenia in 22q11. 2 deletion syndrome AS Bassett, C Lowther, D Merico, G Costain, EWC Chow, ... American Journal of Psychiatry 174 (11), 1054-1063, 2017 | 101 | 2017 |
| Functional outcomes of adults with 22q11. 2 deletion syndrome NJ Butcher, EWC Chow, G Costain, D Karas, A Ho, AS Bassett Genetics in medicine 14 (10), 836-843, 2012 | 96 | 2012 |
| Clinically detectable copy number variations in a Canadian catchment population of schizophrenia AS Bassett, G Costain, WLA Fung, KJ Russell, L Pierce, R Kapadia, ... Journal of psychiatric research 44 (15), 1005-1009, 2010 | 91 | 2010 |
| Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot MS Reuter, R Jobling, RR Chaturvedi, R Manshaei, G Costain, T Heung, ... Genetics in Medicine 21 (4), 1001-1007, 2019 | 82 | 2019 |
| The importance of copy number variation in congenital heart disease G Costain, CK Silversides, AS Bassett NPJ genomic medicine 1 (1), 1-11, 2016 | 81 | 2016 |
| Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets W Warnica, D Merico, G Costain, SE Alfred, J Wei, CR Marshall, ... Biological psychiatry 77 (2), 158-166, 2015 | 79 | 2015 |
| 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 | 76 | 2020 |
| Parental origin of interstitial duplications at 15q11. 2-q13. 3 in schizophrenia and neurodevelopmental disorders AR Isles, A Ingason, C Lowther, J Walters, M Gawlick, G Stöber, E Rees, ... PLoS genetics 12 (5), e1005993, 2016 | 76 | 2016 |
