| 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 | 1567* | 2020 |
| 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 | 497 | 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 | 404 | 2014 |
| 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 | 353 | 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), 1-16, 2019 | 273 | 2019 |
| 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 | 176 | 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 | 138* | 2018 |
| 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 | 120* | 2020 |
| 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 | 120 | 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), 1-21, 2017 | 115 | 2017 |
| 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 | 104 | 2019 |
| 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), 2018 | 95 | 2018 |
| 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, 2017 | 94 | 2017 |
| 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 | 82 | 2019 |
| 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 | 81 | 2018 |
| An information-gain approach to detecting three-way epistatic interactions in genetic association studies T Hu, Y Chen, JW Kiralis, RL Collins, C Wejse, G Sirugo, SM Williams, ... Journal of the American Medical Informatics Association 20 (4), 630-636, 2013 | 65 | 2013 |
| Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders H Brand, V Pillalamarri, RL Collins, S Eggert, C O’Dushlaine, EB Braaten, ... The American Journal of Human Genetics 95 (4), 454-461, 2014 | 50 | 2014 |
| Paired-duplication signatures mark cryptic inversions and other complex structural variation H Brand, RL Collins, C Hanscom, JA Rosenfeld, V Pillalamarri, MR Stone, ... The American Journal of Human Genetics 97 (1), 170-176, 2015 | 44 | 2015 |
| Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR DJC Tai, A Ragavendran, P Manavalan, A Stortchevoi, CM Seabra, ... Nature neuroscience 19 (3), 517-522, 2016 | 43 | 2016 |
| Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis Z Ordulu, T Kammin, H Brand, V Pillalamarri, CE Redin, RL Collins, ... The American Journal of Human Genetics 99 (5), 1015-1033, 2016 | 42 | 2016 |
Harrison BrandAssistant Professor at Harvard Medical School, Massachusetts General Hospital, & Broad InstituteVerified email at mgh.harvard.edu
