Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ... Nature 515 (7526), 209-215, 2014 | 2871 | 2014 |
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 1926 | 2020 |
The human splicing code reveals new insights into the genetic determinants of disease HY Xiong, B Alipanahi, LJ Lee, H Bretschneider, D Merico, RKC Yuen, ... Science 347 (6218), 1254806, 2015 | 1459 | 2015 |
The Database of Genomic Variants: a curated collection of structural variation in the human genome JR MacDonald, R Ziman, RKC Yuen, L Feuk, SW Scherer Nucleic acids research 42 (D1), D986-D992, 2014 | 1435 | 2014 |
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder RKC Yuen, D Merico, M Bookman, JL Howe, B Thiruvahindrapuram, ... Nature Neuroscience 20 (4), 602-611, 2017 | 811 | 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 | 600 | 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 | 551 | 2013 |
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 | 444 | 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, 15012, 2016 | 386 | 2016 |
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 286 | 2022 |
DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia RKC Yuen, MS Peņaherrera, P Von Dadelszen, DE McFadden, ... European Journal of Human Genetics 18 (9), 1006-1012, 2010 | 259 | 2010 |
Genome-wide characteristics of de novo mutations in autism RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ... npj Genomic Medicine 1, 16027, 2016 | 243 | 2016 |
Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia JD Blair, RKC Yuen, BK Lim, DE McFadden, P von Dadelszen, ... Molecular human reproduction 19 (10), 697-708, 2013 | 234 | 2013 |
Hypermethylation of RASSF1A in human and rhesus placentas RWK Chiu, SSC Chim, IHN Wong, CSC Wong, WS Lee, KF To, JHM Tong, ... The American journal of pathology 170 (3), 941, 2007 | 223 | 2007 |
Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors B Novakovic, RK Yuen, L Gordon, MS Penaherrera, A Sharkey, A Moffett, ... BMC genomics 12 (1), 529, 2011 | 207 | 2011 |
The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders JD Buxbaum, MJ Daly, B Devlin, T Lehner, K Roeder Neuron 76 (6), 1052-1056, 2012 | 195 | 2012 |
Genome-wide detection of tandem DNA repeats that are expanded in autism B Trost, W Engchuan, CM Nguyen, B Thiruvahindrapuram, E Dolzhenko, ... Nature 586 (7827), 80-86, 2020 | 186 | 2020 |
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 | 183 | 2014 |
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data B Trost, S Walker, Z Wang, B Thiruvahindrapuram, JR MacDonald, ... The American Journal of Human Genetics 102 (1), 142-155, 2018 | 182 | 2018 |
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ... The American Journal of Human Genetics 104 (6), 1116-1126, 2019 | 181 | 2019 |