| 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 | 8275* | 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 | 1776 | 2020 |
| 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 | 1060 | 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 | 794* | 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 | 771 | 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 | 633 | 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 | 599 | 2014 |
| Genome-wide enhancer maps link risk variants to disease genes J Nasser, DT Bergman, CP Fulco, P Guckelberger, BR Doughty, ... Nature 593 (7858), 238-243, 2021 | 401 | 2021 |
| 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 | 318 | 2017 |
| A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024 | 281* | 2024 |
| 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 | 281 | 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 | 274 | 2018 |
| Whole-genome sequencing to characterize monogenic and polygenic contributions in patients hospitalized with early-onset myocardial infarction AV Khera, M Chaffin, SM Zekavat, RL Collins, C Roselli, P Natarajan, ... Circulation 139 (13), 1593-1602, 2019 | 252 | 2019 |
| 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 | 236* | 2022 |
| Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly T Aneichyk, W Hendriks, R Yadav, D Shin, D Gao, CA Vaine, RL Collins, ... Cell 172 (5), 897-909.e21, 2018 | 209 | 2018 |
| 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 | 199 | 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 | 170 | 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 | 167 | 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 | 160 | 2022 |
| Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 590 (7846), E53-E53, 2021 | 104* | 2021 |
Harrison BrandAssistant Professor at Harvard Medical School, Massachusetts General Hospital, & Broad Institute在 mgh.harvard.edu 的电子邮件经过验证
