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Boxun Zhao, Ph.D.

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Hunan Normal University, Changsha, Hunan, ChinaB.S.07/2012Biological Sciences
Peking Union Medical College at Tsinghua Univsersity, Beijing, ChinaPh.D.07/2017Genetics
National Institute of Biological Sciences (NIBS), Beijing, ChinaPostdoctoral07/2018Bioinformatics
Boston Children’s Hospital and Harvard Medical School, Boston, MAPostdoctoralGenomic Medicine
2018 - 2019
Pilot Project Award
2020 - 2022
Rare Disease Research Fellowship

Dr. Boxun Zhao joined Dr. E. Alice Lee and Dr. Timothy W. Yu's labs in August 2018 as a postdoctoral fellow after a one-year postdoctoral training at Meng-Qiu Dong’s lab in National Institute of Biological Sciences (NIBS), Beijing, China. He obtained his PhD in Genetics in 2017 from Peking Union Medical College and Tsinghua University in Beijing, China. During his doctoral research in Liping Wei’s laboratory at the National Institute of Biological Sciences (NIBS) and Peking University, he studied somatic transposable element (TE) insertions in the human brain and neurological disorders. He developed a novel experimental protocol and established a bioinformatics pipeline to profile genome-wide TE insertions from bulk tissue samples, and his method is sufficiently sensitive to detect low-clonal TE insertions, i.e., ones present in a small number of cells. He has also participated in other projects investigating somatic point mutations in autism and healthy human genomes, and validating large structural variations that are undetectable by typical short-read sequencing platforms. His strong background in human transposon elements and his talents in experimental and computational work give him a solid foundation to pursue his long-term goal of resolving the importance and functional impact of TE insertions in human diseases; and translating scientific discoveries into therapeutics to cure diseases caused by transposon insertion.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. Rare Disease Research Fellowship (Boxun Zhao) Jul 1, 2020 - Jun 30, 2022
    The Manton Center for Orphan Disease Research
    Structural variants in rare disease: discovery, interpretation, and therapeutics
    Role: Investigator
  2. Pilot Project Award (Boxun Zhao) Oct 1, 2018 - Oct 1, 2019
    The Manton Center for Orphan Disease Research
    Pathogenic structural variant identification and splicing defect correction
    Role Description: Advances in next-generation sequencing have revolutionized the diagnosis of genetic diseases; however, there remains a significant fraction of genetic diseases that are not linked to causal mutations, in part because it is challenging to study some structural variants with current sequencing technologies and conventional analytical pipelines. This points to an urgent need for specialized variant calling tools, as well as long-read or linked-read sequencing approaches to elucidate the full spectrum of genomic variants. We propose to undertake an investigation of structural variants as underexplored sources of DNA variation that likely underlie a large portion of unresolved genetic cases. We will systematically identify pathogenic structural variants and characterize their effects on gene transcripts. This research will advance our understanding of the importance of structural variants as a mechanism underlying orphan diseases and will facilitate the development of novel diagnoses and therapeutics.
    Role: Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Zhao B, Madden JA, Lin J, Berry GT, Wojcik MH, Zhao X, Brand H, Talkowski M, Lee EA, Agrawal PB. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. PMID: 35768521; PMCID: PMC9437004.
    Citations:    Fields:    
  2. Wang Y, Zhao B, Choi J, Lee EA. Genomic approaches to trace the history of human brain evolution with an emerging opportunity for transposon profiling of ancient humans. Mob DNA. 2021 Oct 18; 12(1):22. PMID: 34663455; PMCID: PMC8525043.
  3. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. PMID: 33658631; PMCID: PMC9472083.
    Citations: 4     Fields:    Translation:Humans
  4. Chu C, Zhao B, Park PJ, Lee EA. Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data. Curr Protoc Hum Genet. 2020 09; 107(1):e102. PMID: 32662945; PMCID: PMC8906366.
    Citations: 4     Fields:    Translation:HumansCells
  5. Kim J, Zhao B, Huang AY, Miller MB, Lodato MA, Walsh CA, Lee EA. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. PMID: 32814883; PMCID: PMC7704338.
    Citations: 7     Fields:    
  6. Zhao B, Wu Q, Ye AY, Guo J, Zheng X, Yang X, Yan L, Liu QR, Hyde TM, Wei L, Huang AY. Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals. PLoS Genet. 2019 04; 15(4):e1008043. PMID: 30973874; PMCID: PMC6478352.
    Citations: 20     Fields:    Translation:HumansCells
  7. Dou Y, Yang X, Li Z, Wang S, Zhang Z, Ye AY, Yan L, Yang C, Wu Q, Li J, Zhao B, Huang AY, Wei L. Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. Hum Mutat. 2017 08; 38(8):1002-1013. PMID: 28503910.
    Citations: 32     Fields:    Translation:Humans
  8. Huang AY, Xu X, Ye AY, Wu Q, Yan L, Zhao B, Yang X, He Y, Wang S, Zhang Z, Gu B, Zhao HQ, Wang M, Gao H, Gao G, Zhang Z, Yang X, Wu X, Zhang Y, Wei L. Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals. Cell Res. 2014 Nov; 24(11):1311-27. PMID: 25312340.
    Citations: 33     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.