| 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 |
| 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 | 582 | 2015 |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ... The American Journal of Human Genetics 93 (2), 249-263, 2013 | 535 | 2013 |
| 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 | 516 | 2018 |
| 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 |
| Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 368 | 2016 |
| Autism spectrum disorder in the genetics clinic: a review MT Carter, SW Scherer Clinical genetics 83 (5), 399-407, 2013 | 240 | 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 |
| 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 | 176 | 2013 |
| PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ... JCI insight 1 (9), 2016 | 160 | 2016 |
| Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia L Huang, JW Chardon, MT Carter, KL Friend, TE Dudding, ... Orphanet journal of rare diseases 7, 1-7, 2012 | 157 | 2012 |
| 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 |
| Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ... Nature genetics 45 (5), 556-562, 2013 | 115 | 2013 |
| Mask Cave: Red‐slipped pottery and the Australian‐Papuan settlement of Zenadh Kes (Torres Strait) IJ McNiven, WR Dickinson, B David, M Weisler, F Von Gnielinski, M Carter, ... Archaeology in Oceania 41 (2), 49-81, 2006 | 104 | 2006 |
| Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study GM Mirzaa, V Conti, AE Timms, CD Smyser, S Ahmed, M Carter, S Barnett, ... The Lancet Neurology 14 (12), 1182-1195, 2015 | 96 | 2015 |
| Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals MT Carter, SA St. Pierre, EH Zackai, BS Emanuel, KM Boycott American journal of medical genetics Part A 149 (8), 1712-1721, 2009 | 94 | 2009 |
| Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder A Chaudhry, A Noor, B Degagne, K Baker, LA Bok, AF Brady, D Chitayat, ... Clinical genetics 88 (3), 224-233, 2015 | 90 | 2015 |
| Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder MT Carter, SM Nikkel, BA Fernandez, CR Marshall, A Noor, AC Lionel, ... Clinical genetics 80 (5), 435-443, 2011 | 77 | 2011 |
| Conservation of RET proto-oncogene splicing variants and implications for RET isoform function MT Carter, JL Yome, MN Marcil, CA Martin, JB Vanhorne, LM Mulligan Cytogenetics and cell genetics 95 (3-4), 169-176, 2001 | 77 | 2001 |
| Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis T Yuen, M Penner, MT Carter, P Szatmari, WJ Ungar Developmental Medicine & Child Neurology 60 (11), 1093-1100, 2018 | 70 | 2018 |
