| Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations Y Dou, X Yang, Z Li, S Wang, Z Zhang, AY Ye, L Yan, C Yang, Q Wu, J Li, ... Human mutation 38 (8), 1002-1013, 2017 | 93 | 2017 |
| A framework for individualized splice-switching oligonucleotide therapy J Kim, S Woo, CM de Gusmao, B Zhao, DH Chin, RL DiDonato, ... Nature 619 (7971), 828-836, 2023 | 75 | 2023 |
| Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals B Zhao, Q Wu, AY Ye, J Guo, X Zheng, X Yang, L Yan, QR Liu, TM Hyde, ... PLoS genetics 15 (4), e1008043, 2019 | 71 | 2019 |
| Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals AY Huang, X Xu, AY Ye, Q Wu, L Yan, B Zhao, X Yang, Y He, S Wang, ... Cell research 24 (11), 1311-1327, 2014 | 70 | 2014 |
| Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior HK Harris, T Nakayama, J Lai, B Zhao, N Argyrou, CS Gubbels, A Soucy, ... Genetics in Medicine 23 (6), 1028-1040, 2021 | 53 | 2021 |
| APP gene copy number changes reflect exogenous contamination J Kim, B Zhao, AY Huang, MB Miller, MA Lodato, CA Walsh, EA Lee Nature 584 (7821), E20-E28, 2020 | 21* | 2020 |
| Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data C Chu, B Zhao, PJ Park, EA Lee Current Protocols in Human Genetics 107 (1), e102, 2020 | 14 | 2020 |
| A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene B Zhao, JA Madden, J Lin, GT Berry, MH Wojcik, X Zhao, H Brand, ... European Journal of Human Genetics 30 (9), 1083-1087, 2022 | 12 | 2022 |
| Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer’s disease microglia AY Huang, Z Zhou, M Talukdar, MB Miller, B Chhouk, L Enyenihi, I Rosen, ... bioRxiv, 2024 | 5 | 2024 |
| Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia B Zhao, MA Nguyen, S Woo, J Kim, WY Timothy, EA Lee The American Journal of Human Genetics 110 (11), 1976-1982, 2023 | 5 | 2023 |
| Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans Y Wang, B Zhao, J Choi, EA Lee Mobile DNA 12, 1-19, 2021 | 5 | 2021 |
| Human cytomegalovirus harnesses host L1 retrotransposon for efficient replication SY Hwang, H Kim, D Denisko, B Zhao, D Lee, J Jeong, J Kim, K Park, ... Nature Communications 15 (1), 7640, 2024 | 2 | 2024 |
| A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders AS Lee, LJ Ayers, M Kosicki, WM Chan, LN Fozo, BM Pratt, TE Collins, ... Nature Communications 15 (1), 8268, 2024 | | 2024 |
| 51886 Therapeutic opportunities for ASO-based gene restoration in haploinsufficient genodermatoses J Lai, L Bassini, B Zhao, D Demirbas, T Yu Journal of the American Academy of Dermatology 91 (3), AB338, 2024 | | 2024 |
| Creation of a custom antisense oligonucleotide (ASO) for a single patient with retinal dystrophy caused by an intronic pseudogene. EA McCourt, B Zhao, MT Mathias, A Larson, T Yu Investigative Ophthalmology & Visual Science 65 (7), 5311-5311, 2024 | | 2024 |
| Method for low frequency somatic cell mutation identification and quantification L WEI, B ZHAO, Y HUANG, Q WU, Y YE, X ZHENG US Patent App. 16/616,865, 2023 | | 2023 |
| OP024: Discovery and therapeutic implications of pathogenic retroelements in neurodegenerative diseases B Zhao, A Larson, C Hu, D Chiabrando, D Chin, E McCourt, F Bertino, ... Genetics in Medicine 24 (3), S353-S354, 2022 | | 2022 |
August Yue HuangAssistant Professor, Boston Children's Hospital and Harvard Medical SchoolVerified email at childrens.harvard.edu