| Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2361 | 2010 |
| Structural variation of chromosomes in autism spectrum disorder CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ... The American Journal of Human Genetics 82 (2), 477-488, 2008 | 2192 | 2008 |
| Subgroup-specific structural variation across 1,000 medulloblastoma genomes PA Northcott, DJH Shih, J Peacock, L Garzia, A Sorana Morrissy, ... Nature 488 (7409), 49-56, 2012 | 995 | 2012 |
| A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 737 | 2010 |
| 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 | 568 | 2018 |
| Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants D Pinto, K Darvishi, X Shi, D Rajan, D Rigler, T Fitzgerald, AC Lionel, ... Nature biotechnology 29 (6), 512-520, 2011 | 486 | 2011 |
| 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 | 446 | 2015 |
| Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity M Meyer, J Reimand, X Lan, R Head, X Zhu, M Kushida, J Bayani, ... Proceedings of the National Academy of Sciences 112 (3), 851-856, 2015 | 434 | 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 | 419 | 2011 |
| SHANK1 deletions in males with autism spectrum disorder D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ... The American Journal of Human Genetics 90 (5), 879-887, 2012 | 398 | 2012 |
| Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13. 3 NM Williams, B Franke, E Mick, RJL Anney, CM Freitag, M Gill, A Thapar, ... American Journal of Psychiatry 169 (2), 195-204, 2012 | 359 | 2012 |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder AK Vaags, AC Lionel, D Sato, MK Goodenberger, QP Stein, S Curran, ... The American Journal of Human Genetics 90 (1), 133-141, 2012 | 261 | 2012 |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ... Science translational medicine 2 (49), 49ra68-49ra68, 2010 | 253 | 2010 |
| 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 | 222 | 2012 |
| Copy number variations and risk for schizophrenia in 22q11. 2 deletion syndrome AS Bassett, CR Marshall, AC Lionel, EWC Chow, SW Scherer Human molecular genetics 17 (24), 4045-4053, 2008 | 212 | 2008 |
| 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 | 200 | 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 | 186 | 2013 |
| 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 | 184 | 2014 |
| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 184 | 2013 |
| Rare copy number variants contribute to congenital left-sided heart disease MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies, ... Public Library of Science 8 (9), e1002903, 2012 | 165 | 2012 |
