| A structural variation reference for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ... Nature 581 (7809), 444-451, 2020 | 776* | 2020 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 154 | 2022 |
| 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 | 138 | 2013 |
| 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 | 137 | 2015 |
| 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 | 110 | 2021 |
| 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 |
| Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies X Zhao, RL Collins, WP Lee, AM Weber, Y Jun, Q Zhu, B Weisburd, ... The American Journal of Human Genetics 108 (5), 919-928, 2021 | 89 | 2021 |
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes MN Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, ... Molecular Psychiatry 22 (6), 836-849, 2017 | 89 | 2017 |
| 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 |
| 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 | 71 | 2019 |
| 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 | 71 | 2016 |
| Risks and recommendations in prenatally detected de novo balanced chromosomal rearrangements from assessment of long-term outcomes C Halgren, NM Nielsen, L Nazaryan-Petersen, A Silahtaroglu, RL Collins, ... The American Journal of Human Genetics 102 (6), 1090-1103, 2018 | 48 | 2018 |
| Genomic disorders in psychiatry—what does the clinician need to know? C Lowther, G Costain, DA Baribeau, AS Bassett Current psychiatry reports 19, 1-10, 2017 | 46 | 2017 |
| Deletion of 15q11. 2 (BP1‐BP2) region: further evidence for lack of phenotypic specificity in a pediatric population B Hashemi, A Bassett, D Chitayat, K Chong, M Feldman, J Flanagan, ... American Journal of Medical Genetics Part A 167 (9), 2098-2102, 2015 | 39 | 2015 |
| Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia C Lowther, D Merico, G Costain, J Waserman, K Boyd, A Noor, ... Genome medicine 9, 1-13, 2017 | 37 | 2017 |
| Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ... The American Journal of Human Genetics 110 (9), 1454-1469, 2023 | 24* | 2023 |
| Adult expression of a 3q13. 31 microdeletion C Lowther, G Costain, R Melvin, DJ Stavropoulos, AC Lionel, CR Marshall, ... Molecular cytogenetics 7, 1-7, 2014 | 18 | 2014 |
| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models K Mohajeri, R Yadav, E D'haene, PM Boone, S Erdin, D Gao, ... The American Journal of Human Genetics 109 (11), 2049-2067, 2022 | 12 | 2022 |
| De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients CCY Mak, PC Chow, APY Liu, KYK Chan, YWY Chu, GTK Mok, ... NPJ Genomic Medicine 1 (1), 1-8, 2016 | 10 | 2016 |
| Points to consider in the detection of germline structural variants using next-generation sequencing: a statement of the American College of Medical Genetics and Genomics (ACMG) G Raca, C Astbury, A Behlmann, MJ De Castro, SE Hickey, E Karaca, ... Genetics in Medicine 25 (2), 100316, 2023 | 9 | 2023 |
