| Whole-genome sequencing of quartet families with autism spectrum disorder RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ... Nature medicine 21 (2), 185-191, 2015 | 583 | 2015 |
| 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 | 415 | 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 |
| 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 | 183 | 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 | 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 |
| 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 |
| De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy M Zarrei, DL Fehlings, K Mawjee, L Switzer, B Thiruvahindrapuram, ... Genetics in Medicine 20 (2), 172-180, 2018 | 90 | 2018 |
| Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression C Lowther, M Speevak, CM Armour, ES Goh, GE Graham, C Li, ... Genetics in Medicine 19 (1), 53-61, 2017 | 87 | 2017 |
| 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 |
| CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders O Mercati, G Huguet, A Danckaert, G André-Leroux, A Maruani, ... Molecular psychiatry 22 (4), 625-633, 2017 | 83 | 2017 |
| Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation MJ Gazzellone, M Zarrei, CL Burton, S Walker, M Uddin, SM Shaheen, ... Journal of neurodevelopmental disorders 8, 1-10, 2016 | 74 | 2016 |
| 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 |
| Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11. 2 deletion syndrome D Merico, M Zarrei, G Costain, L Ogura, B Alipanahi, MJ Gazzellone, ... G3: Genes, Genomes, Genetics 5 (11), 2453-2461, 2015 | 58 | 2015 |
| Indexing effects of copy number variation on genes involved in developmental delay M Uddin, G Pellecchia, B Thiruvahindrapuram, L D’Abate, D Merico, ... Scientific reports 6 (1), 28663, 2016 | 39 | 2016 |
| Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions M Tropeano, D Howley, MJ Gazzellone, CE Wilson, JW Ahn, ... Journal of medical genetics 53 (8), 536-547, 2016 | 33 | 2016 |
| Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity T Selvanayagam, S Walker, MJ Gazzellone, B Kellam, C Cytrynbaum, ... European Journal of Human Genetics 26 (11), 1588-1596, 2018 | 31 | 2018 |
| Adult neuropsychiatric expression and familial segregation of 2q13 duplications G Costain, AC Lionel, F Fu, DJ Stavropoulos, MJ Gazzellone, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165 …, 2014 | 31 | 2014 |
| Atypical antipsychotics, dystonia, and psychotic depression: old solutions for new problems MJ Gazzellone, D Oliver, D Groll, FA Gomes Journal of Psychiatry and Neuroscience 47 (3), E194-E195, 2022 | | 2022 |
| MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations C Lowther, M Speevak, C Armour, E Goh, G Graham, C Li, S Zeesman, ... Journal of Medical Genetics 52 (Suppl 2), A9-A9, 2015 | | 2015 |
Scherer, Stephen W.The Hospital for Sick Children, Genetics and Genome Biology Program, University of TorontoVerified email at sickkids.ca
