| Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 10400 | 2016 |
| The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 8269* | 2020 |
| Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ... Nature 515 (7526), 209-215, 2014 | 2787 | 2014 |
| 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 | 2033 | 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 | 1790 | 2020 |
| Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ... Neuron 87 (6), 1215-1233, 2015 | 1483 | 2015 |
| High-throughput discovery of novel developmental phenotypes ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ... Nature 537 (7621), 508-514, 2016 | 1098 | 2016 |
| A framework for the interpretation of de novo mutation in human disease KE Samocha, EB Robinson, SJ Sanders, C Stevens, A Sabo, LM McGrath, ... Nature genetics 46 (9), 944-950, 2014 | 1088 | 2014 |
| De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... Science 350 (6265), 1262-1266, 2015 | 774 | 2015 |
| The ExAC browser: displaying reference data information from over 60 000 exomes KJ Karczewski, B Weisburd, B Thomas, M Solomonson, DM Ruderfer, ... Nucleic acids research 45 (D1), D840-D845, 2017 | 744 | 2017 |
| 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 | 737 | 2020 |
| Searching for missing heritability: designing rare variant association studies O Zuk, SF Schaffner, K Samocha, R Do, E Hechter, S Kathiresan, MJ Daly, ... Proceedings of the National Academy of Sciences 111 (4), E455-E464, 2014 | 719 | 2014 |
| Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ... Nature genetics 49 (7), 978, 2017 | 470 | 2017 |
| Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population EB Robinson, B St Pourcain, V Anttila, JA Kosmicki, B Bulik-Sullivan, ... Nature genetics 48 (5), 552-555, 2016 | 438 | 2016 |
| Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 436* | 2020 |
| The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity DG Grimm, CA Azencott, F Aicheler, U Gieraths, DG MacArthur, ... Human mutation 36 (5), 513-523, 2015 | 372 | 2015 |
| Quantifying prion disease penetrance using large population control cohorts EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ... Science translational medicine 8 (322), 322ra9-322ra9, 2016 | 368 | 2016 |
| Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples JA Kosmicki, KE Samocha, DP Howrigan, SJ Sanders, K Slowikowski, ... Nature genetics 49 (4), 504-510, 2017 | 335 | 2017 |
| Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity D Saleheen, P Natarajan, IM Armean, W Zhao, A Rasheed, SA Khetarpal, ... Nature 544 (7649), 235-239, 2017 | 322 | 2017 |
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 319 | 2015 |
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad Institute在 atgu.mgh.harvard.edu 的电子邮件经过验证
