| 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 | 7994* | 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 | 1690 | 2020 |
| 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 | 762* | 2020 |
| 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 | 751 | 2019 |
| 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 | 628 | 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 | 594 | 2014 |
| 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 | 428 | 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 | 418 | 2022 |
| 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 |
| 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 | 307 | 2017 |
| 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 | 276 | 2018 |
| 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 | 267 | 2018 |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 216* | 2022 |
| Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly T Aneichyk, WT Hendriks, R Yadav, D Shin, D Gao, CA Vaine, RL Collins, ... Cell 172 (5), 897-909, 2018 | 201 | 2018 |
| Mutations in DCHS1 cause mitral valve prolapse R Durst, K Sauls, DS Peal, A Devlaming, K Toomer, M Leyne, M Salani, ... Nature 525 (7567), 109-113, 2015 | 199 | 2015 |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ... Genome biology 18, 1-21, 2017 | 197 | 2017 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 166 | 2017 |
| Loss of δ-catenin function in severe autism TN Turner, K Sharma, EC Oh, YP Liu, RL Collins, MX Sosa, DR Auer, ... Nature 520 (7545), 51-56, 2015 | 166 | 2015 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 151 | 2022 |
| Primary cilia defects causing mitral valve prolapse KA Toomer, M Yu, D Fulmer, L Guo, KS Moore, R Moore, KD Drayton, ... Science translational medicine 11 (493), eaax0290, 2019 | 94 | 2019 |
