| 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 | 865 | 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 | 842 | 2019 |
| 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 | 642 | 2022 |
| 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 | 558 | 2021 |
| 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 | 309 | 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 | 292 | 2018 |
| Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network MJ McConnell, JV Moran, A Abyzov, S Akbarian, T Bae, I Cortes-Ciriano, ... Science 356 (6336), eaal1641, 2017 | 261 | 2017 |
| Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex DM Werling, S Pochareddy, J Choi, JY An, B Sheppard, M Peng, Z Li, ... Cell reports 31 (1), 2020 | 123 | 2020 |
| Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies X Zhao, RL Collins, WP Lee, AM Weber, Y Jun, Q Zhu, B Weisburd, ... The American Journal of Human Genetics 108 (5), 919-928, 2021 | 109 | 2021 |
| Human-specific tandem repeat expansion and differential gene expression during primate evolution A Sulovari, R Li, PA Audano, D Porubsky, MR Vollger, GA Logsdon, ... Proceedings of the National Academy of Sciences 116 (46), 23243-23253, 2019 | 108 | 2019 |
| De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families JR Belyeu, H Brand, H Wang, X Zhao, BS Pedersen, J Feusier, M Gupta, ... The American Journal of Human Genetics 108 (4), 597-607, 2021 | 88 | 2021 |
| An open resource of structural variation for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, AV Khera, ... BioRxiv, 578674, 2019 | 87 | 2019 |
| Functional annotation of rare structural variation in the human brain L Han, X Zhao, ML Benton, T Perumal, RL Collins, GE Hoffman, ... Nature communications 11 (1), 2990, 2020 | 56 | 2020 |
| A harmonized public resource of deeply sequenced diverse human genomes Z Koenig, MT Yohannes, LL Nkambule, X Zhao, JK Goodrich, HA Kim, ... Genome Research, 2024 | 55 | 2024 |
| Resolving complex structural genomic rearrangements using a randomized approach X Zhao, SB Emery, B Myers, JM Kidd, RE Mills Genome biology 17, 1-13, 2016 | 54 | 2016 |
| GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data M Babadi, JM Fu, SK Lee, AN Smirnov, LD Gauthier, M Walker, ... Nature genetics 55 (9), 1589-1597, 2023 | 45 | 2023 |
| A recurrence-based approach for validating structural variation using long-read sequencing technology X Zhao, AM Weber, RE Mills Gigascience 6 (8), gix061, 2017 | 36 | 2017 |
| Genome‐wide analysis of structural variants in Parkinson disease KJ Billingsley, J Ding, PA Jerez, A Illarionova, K Levine, FP Grenn, ... Annals of neurology 93 (5), 1012-1022, 2023 | 27 | 2023 |
| Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ... The American Journal of Human Genetics 110 (9), 1454-1469, 2023 | 21 | 2023 |
| Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019; 10 (1): 1784 MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Epub 2019/04/18. https://doi. org/10.1038/s41467-018-08148-z PMID: 30992455, 0 | 19 | |
