| 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 | 7317 | 2016 |
| 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 | 1761 | 2014 |
| 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 | 1597* | 2020 |
| 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 | 761 | 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), 978-985, 2017 | 387* | 2017 |
| 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 | 357 | 2020 |
| 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 | 287 | 2016 |
| Predicting splicing from primary sequence with deep learning K Jaganathan, SK Panagiotopoulou, JF McRae, SF Darbandi, D Knowles, ... Cell 176 (3), 535-548. e24, 2019 | 277 | 2019 |
| 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, 2017 | 201 | 2017 |
| Use of machine learning to shorten observation-based screening and diagnosis of autism DP Wall, J Kosmicki, TF Deluca, E Harstad, VA Fusaro Translational psychiatry 2 (4), e100-e100, 2012 | 183 | 2012 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 120 | 2018 |
| Predicting the clinical impact of human mutation with deep neural networks L Sundaram, H Gao, SR Padigepati, JF McRae, Y Li, JA Kosmicki, ... Nature genetics 50 (8), 1161-1170, 2018 | 113 | 2018 |
| Autism spectrum disorder severity reflects the average contribution of de novo and familial influences EB Robinson, KE Samocha, JA Kosmicki, L McGrath, BM Neale, ... Proceedings of the National Academy of Sciences 111 (42), 15161-15165, 2014 | 112 | 2014 |
| Regional missense constraint improves variant deleteriousness prediction KE Samocha, JA Kosmicki, KJ Karczewski, AH O’Donnell-Luria, ... BioRxiv, 148353, 2017 | 96 | 2017 |
| Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning JA Kosmicki, V Sochat, M Duda, DP Wall Translational psychiatry 5 (2), e514-e514, 2015 | 95 | 2015 |
| Testing the accuracy of an observation-based classifier for rapid detection of autism risk M Duda, JA Kosmicki, DP Wall Translational psychiatry 4 (8), e424-e424, 2014 | 59 | 2014 |
| Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants FK Satterstrom, RK Walters, T Singh, EM Wigdor, F Lescai, D Demontis, ... Nature neuroscience 22 (12), 1961-1965, 2019 | 56* | 2019 |
| A potential contributory role for ciliary dysfunction in the 16p11. 2 600 kb BP4-BP5 pathology E Migliavacca, C Golzio, K Männik, I Blumenthal, EC Oh, L Harewood, ... The American Journal of Human Genetics 96 (5), 784-796, 2015 | 44 | 2015 |
| Discovery of rare variants for complex phenotypes JA Kosmicki, CL Churchhouse, MA Rivas, BM Neale Human genetics 135 (6), 625-634, 2016 | 41 | 2016 |
| Transcript expression-aware annotation improves rare variant interpretation BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ... Nature 581 (7809), 452-458, 2020 | 34* | 2020 |
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad Instituteatgu.mgh.harvard.edu üzerinde doğrulanmış e-posta adresine sahip
