| Patterns and rates of exonic de novo mutations in autism spectrum disorders BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ... Nature 485 (7397), 242-245, 2012 | 2054 | 2012 |
| 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 | 1829 | 2020 |
| Using whole-exome sequencing to identify inherited causes of autism WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ... Neuron 77 (2), 259-273, 2013 | 525 | 2013 |
| Distribution and medical impact of loss-of-function variants in the Finnish founder population ET Lim, P Würtz, AS Havulinna, P Palta, T Tukiainen, K Rehnström, ... PLoS genetics 10 (7), e1004494, 2014 | 460 | 2014 |
| An enhanced CRISPR repressor for targeted mammalian gene regulation NC Yeo, A Chavez, A Lance-Byrne, Y Chan, D Menn, D Milanova, ... Nature methods 15 (8), 611-616, 2018 | 458 | 2018 |
| Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ... Neuron 77 (2), 235-242, 2013 | 306 | 2013 |
| Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes X He, SJ Sanders, L Liu, S De Rubeis, ET Lim, JS Sutcliffe, ... PLoS genetics 9 (8), e1003671, 2013 | 298 | 2013 |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder ET Lim, M Uddin, S De Rubeis, Y Chan, AS Kamumbu, X Zhang, ... Nature neuroscience 20 (9), 1217-1224, 2017 | 285 | 2017 |
| Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination DH Margolin, M Kousi, YM Chan, ET Lim, JD Schmahmann, ... New England Journal of Medicine 368 (21), 1992-2003, 2013 | 249 | 2013 |
| The genetic landscape of Diamond-Blackfan anemia JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ... The American Journal of Human Genetics 103 (6), 930-947, 2018 | 239 | 2018 |
| De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder PJ Hamilton, NG Campbell, S Sharma, K Erreger, F Herborg Hansen, ... Molecular psychiatry 18 (12), 1315-1323, 2013 | 239 | 2013 |
| Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism MH Chahrour, TW Yu, ET Lim, B Ataman, ME Coulter, RS Hill, ... PLoS genetics 8 (4), e1002635, 2012 | 233 | 2012 |
| REST and neural gene network dysregulation in iPSC models of Alzheimer’s disease K Meyer, HM Feldman, T Lu, D Drake, ET Lim, KH Ling, NA Bishop, Y Pan, ... Cell reports 26 (5), 1112-1127. e9, 2019 | 191 | 2019 |
| DGAT1 mutation is linked to a congenital diarrheal disorder JT Haas, HS Winter, E Lim, A Kirby, B Blumenstiel, M DeFelice, S Gabriel, ... The Journal of clinical investigation 122 (12), 4680-4684, 2012 | 160 | 2012 |
| Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses YK Chan, SK Wang, CJ Chu, DA Copland, AJ Letizia, H Costa Verdera, ... Science translational medicine 13 (580), eabd3438, 2021 | 156 | 2021 |
| Recessive gene disruptions in autism spectrum disorder RN Doan, ET Lim, S De Rubeis, C Betancur, DJ Cutler, AG Chiocchetti, ... Nature genetics 51 (7), 1092-1098, 2019 | 149 | 2019 |
| Identification of function for CD44 intracytoplasmic domain (CD44-ICD): modulation of matrix metalloproteinase 9 (MMP-9) transcription via novel promoter response element KE Miletti-González, K Murphy, MN Kumaran, AK Ravindranath, ... Journal of Biological Chemistry 287 (23), 18995-19007, 2012 | 138 | 2012 |
| A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system JF Staropoli, A Karaa, ET Lim, A Kirby, N Elbalalesy, SG Romansky, ... The American Journal of Human Genetics 91 (1), 202-208, 2012 | 133 | 2012 |
| Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls L Liu, A Sabo, BM Neale, U Nagaswamy, C Stevens, E Lim, CA Bodea, ... PLoS genetics 9 (4), e1003443, 2013 | 108 | 2013 |
| The ESCRT-III protein CHMP1A mediates secretion of sonic hedgehog on a distinctive subtype of extracellular vesicles ME Coulter, CM Dorobantu, GA Lodewijk, F Delalande, S Cianferani, ... Cell reports 24 (4), 973-986. e8, 2018 | 94 | 2018 |
