| 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 | 7024 | 2020 |
| 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 | 1697 | 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 | 1458 | 2015 |
| Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... biorxiv, 531210, 2019 | 1160 | 2019 |
| Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ... Cell 179 (7), 1469-1482. e11, 2019 | 1030 | 2019 |
| Multi-platform discovery of haplotype-resolved structural variation in human genomes MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Nature communications 10 (1), 1784, 2019 | 753 | 2019 |
| 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 | 701 | 2020 |
| Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ... Cell 149 (3), 525-537, 2012 | 641 | 2012 |
| Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing A Veres, BS Gosis, Q Ding, R Collins, A Ragavendran, H Brand, S Erdin, ... Cell stem cell 15 (1), 27-30, 2014 | 630 | 2014 |
| Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9 PK Mandal, LMR Ferreira, R Collins, TB Meissner, CL Boutwell, M Friesen, ... Cell stem cell 15 (5), 643-652, 2014 | 595 | 2014 |
| KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant C Golzio, J Willer, ME Talkowski, EC Oh, Y Taniguchi, S Jacquemont, ... Nature 485 (7398), 363-367, 2012 | 456 | 2012 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 434 | 2021 |
| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 422 | 2022 |
| Mapping and phasing of structural variation in patient genomes using nanopore sequencing M Cretu Stancu, MJ Van Roosmalen, I Renkens, MM Nieboer, ... Nature communications 8 (1), 1326, 2017 | 365 | 2017 |
| CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors A Sugathan, M Biagioli, C Golzio, S Erdin, I Blumenthal, P Manavalan, ... Proceedings of the National Academy of Sciences 111 (42), E4468-E4477, 2014 | 339 | 2014 |
| Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations PR Loh, G Genovese, RE Handsaker, HK Finucane, YA Reshef, ... Nature 559 (7714), 350-355, 2018 | 316 | 2018 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 310 | 2017 |
| Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration C Chiang, JC Jacobsen, C Ernst, C Hanscom, A Heilbut, I Blumenthal, ... Nature genetics 44 (4), 390-397, 2012 | 283 | 2012 |
| Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder JY An, K Lin, L Zhu, DM Werling, S Dong, H Brand, HZ Wang, X Zhao, ... Science 362 (6420), eaat6576, 2018 | 269 | 2018 |
| An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder DM Werling, H Brand, JY An, MR Stone, L Zhu, JT Glessner, RL Collins, ... Nature genetics 50 (5), 727-736, 2018 | 261 | 2018 |
