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 | 84 | 2017 |
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 | 65 | 2014 |
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 | 63 | 2019 |
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 | 34 | 2021 |
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 | 22 | 2023 |
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 | 18 | 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 | 13 | 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 | 8 | 2022 |
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 | 4 | 2021 |
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 | 2 | 2023 |
Evidence that APP gene copy number changes reflect recombinant vector contamination J Kim, B Zhao, AY Huang, MB Miller, MA Lodato, CA Walsh, EA Lee bioRxiv, 706788, 2019 | 2 | 2019 |
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 | | 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 |
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, ... medRxiv, 2023.12. 22.23300468, 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 |
Somatic LINE-1 retrotransposition in cortical neurons of Rett patients and healthy individuals B Zhao, Q Wu, AY Ye, J Guo, X Zheng, X Yang, L Yan, QR Liu, TM Hyde, ... bioRxiv, 506758, 2018 | | 2018 |