Publications by authors named "Boxun Zhao"

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Multi-platform framework for mapping somatic retrotransposition in human tissues.
Seunghyun Wang, Mingyun Bae, Jinhao Wang, Boxun Zhao, Khue Nguyen

bioRxiv· October 2025

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The Somatic Mosaicism across Human Tissues Network.
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao

Nature· July 2025

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Multi-omic analysis of the ciliogenic transcription factor reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.
Jenny Lai, Didem Demirbas, Kaitlyn Phillips, Boxun Zhao, Harrison Wallace

bioRxiv· March 2025

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Inverted Alu repeats in loop-out exon skipping across hominoid evolution.
Danielle Denisko, Jeonghyeon Kim, Jayoung Ku, Boxun Zhao, Eunjung Alice Lee

bioRxiv· March 2025

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Human cytomegalovirus harnesses host L1 retrotransposon for efficient replication.
Sung-Yeon Hwang, Hyewon Kim, Danielle Denisko, Boxun Zhao, Dohoon Lee

Nat Commun· September 2024

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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Arthur S Lee, Lauren J Ayers, Michael Kosicki, Wai-Man Chan, Lydia N Fozo, Boxun Zhao, Xuefang Zhao

Nat Commun· September 2024

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Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.
August Yue Huang, Zinan Zhou, Maya Talukdar, Michael B Miller, Brian Chhouk, Boxun Zhao

bioRxiv· January 2024

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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Arthur S Lee, Lauren J Ayers, Michael Kosicki, Wai-Man Chan, Lydia N Fozo, Boxun Zhao, Xuefang Zhao

medRxiv· December 2023

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Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.
Boxun Zhao, Minh A Nguyen, Sijae Woo, Jinkuk Kim, Timothy W Yu

Am J Hum Genet· November 2023

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A framework for individualized splice-switching oligonucleotide therapy.
Jinkuk Kim, Sijae Woo, Claudio M de Gusmao, Boxun Zhao, Diana H Chin

Nature· July 2023

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A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Boxun Zhao, Jill A Madden, Jasmine Lin, Gerard T Berry, Monica H Wojcik, Xuefang Zhao

Eur J Hum Genet· September 2022

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Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans.
Yilan Wang, Boxun Zhao, Jaejoon Choi, Eunjung Alice Lee

Mob DNA· October 2021

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou

Genet Med· June 2021

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Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.
Chong Chu, Boxun Zhao, Peter J Park, Eunjung Alice Lee

Curr Protoc Hum Genet· September 2020

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APP gene copy number changes reflect exogenous contamination.
Junho Kim, Boxun Zhao, August Yue Huang, Michael B Miller, Michael A Lodato

Nature· August 2020

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Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals.
Boxun Zhao, Qixi Wu, Adam Yongxin Ye, Jing Guo, Xianing Zheng

PLoS Genet· April 2019

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Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
Yanmei Dou, Xiaoxu Yang, Ziyi Li, Sheng Wang, Zheng Zhang, Boxun Zhao

Hum Mutat· August 2017

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Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.
August Y Huang, Xiaojing Xu, Adam Y Ye, Qixi Wu, Linlin Yan, Boxun Zhao, Han-Qing Zhao

Cell Res· November 2014

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