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| 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 | 9310* | 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 | 2979 | 2014 |
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| 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 | 1577 | 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 | 1172 | 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 | 1147 | 2014 |
| 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 | 869 | 2020 |
| 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 | 838 | 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 | 797 | 2017 |
| 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 | 749 | 2014 |
| 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 | 538 | 2020 |
| 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 | 506 | 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 | 453 | 2016 |
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| 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 | 391 | 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 | 362 | 2017 |
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Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteGeverifieerd e-mailadres voor atgu.mgh.harvard.edu
