| Origins and functional impact of copy number variation in the human genome DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ... Nature 464 (7289), 704-712, 2010 | 2241 | 2010 |
| 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 | 759 | 2017 |
| Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ... Jama 314 (9), 895-903, 2015 | 412 | 2015 |
| Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD AC Lionel, J Crosbie, N Barbosa, T Goodale, B Thiruvahindrapuram, ... Science translational medicine 3 (95), 95ra75-95ra75, 2011 | 408 | 2011 |
| Towards a comprehensive structural variation map of an individual human genome AW Pang, JR MacDonald, D Pinto, J Wei, MA Rafiq, DF Conrad, H Park, ... Genome biology 11, 1-14, 2010 | 392 | 2010 |
| Myelination transition zone astrocytes are constitutively phagocytic and have synuclein dependent reactivity in glaucoma JV Nguyen, I Soto, KY Kim, EA Bushong, E Oglesby, FJ Valiente-Soriano, ... Proceedings of the National Academy of Sciences 108 (3), 1176-1181, 2011 | 222 | 2011 |
| Genome assembly comparison identifies structural variants in the human genome R Khaja, J Zhang, JR MacDonald, Y He, AM Joseph-George, J Wei, ... Nature genetics 38 (12), 1413-1418, 2006 | 214 | 2006 |
| A discovery resource of rare copy number variations in individuals with autism spectrum disorder A Prasad, D Merico, B Thiruvahindrapuram, J Wei, AC Lionel, D Sato, ... G3: Genes| Genomes| Genetics 2 (12), 1665-1685, 2012 | 213 | 2012 |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 177 | 2014 |
| Clinically relevant copy number variations detected in cerebral palsy M Oskoui, MJ Gazzellone, B Thiruvahindrapuram, M Zarrei, J Andersen, ... Nature communications 6 (1), 7949, 2015 | 155 | 2015 |
| 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 | 137 | 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 | 94 | 2017 |
| OTUD7A regulates neurodevelopmental phenotypes in the 15q13. 3 microdeletion syndrome M Uddin, BK Unda, V Kwan, NT Holzapfel, SH White, L Chalil, ... The American Journal of Human Genetics 102 (2), 278-295, 2018 | 90 | 2018 |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes A Noor, AC Lionel, S Cohen‐Woods, N Moghimi, J Rucker, A Fennell, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165 …, 2014 | 89 | 2014 |
| A high-resolution copy-number variation resource for clinical and population genetics M Uddin, B Thiruvahindrapuram, S Walker, Z Wang, P Hu, S Lamoureux, ... Genetics in medicine 17 (9), 747-752, 2015 | 85 | 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 | 81 | 2022 |
| 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 | 76 | 2015 |
| 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 |
| Copy number variation in Han Chinese individuals with autism spectrum disorder MJ Gazzellone, X Zhou, AC Lionel, M Uddin, B Thiruvahindrapuram, ... Journal of neurodevelopmental disorders 6, 1-7, 2014 | 63 | 2014 |
| Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders L D’Abate, S Walker, RKC Yuen, K Tammimies, JA Buchanan, RW Davies, ... Nature communications 10 (1), 5519, 2019 | 39 | 2019 |
