Xiaochang Zhang, PhD

How our brain is developed and evolved remains a major question, and abnormal development of the human brain can cause autism, epilepsy and intellectual disability. We study fundamental mechanisms of brain development and disorders. Our current research includes: mechanisms of cell type specification in mammalian brains, genetics of neurodevelopmental disorders, and roles of mRNA isoforms in neural development and diseases. We develop and apply single-cell approaches, animal models, and functional genomics to address these questions.

Boston Children's Hospital and Harvard Medical School
Boston
Postdoc/Instructor - Human Genetics
2017

Fudan University
Shanghai
PhD - Developmental Genetics
2009

Infernape uncovers cell type-specific and spatially resolved alternative polyadenylation in the brain.
Infernape uncovers cell type-specific and spatially resolved alternative polyadenylation in the brain. Genome Res. 2023 10; 33(10):1774-1787.
PMID: 37907328

Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons.
Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons. Cell Rep. 2023 11 28; 42(11):113335.
PMID: 37889749

PIE-seq: identifying RNA-binding protein targets by dual RNA-deaminase editing and sequencing.
PIE-seq: identifying RNA-binding protein targets by dual RNA-deaminase editing and sequencing. Nat Commun. 2023 06 06; 14(1):3275.
PMID: 37280234

Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.
Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing. Neuron. 2023 05 17; 111(10):1637-1650.e5.
PMID: 36917980

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243.
PMID: 35688811

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 02; 24(2):319-331.
PMID: 34906466

Progenitor cell diversity in the developing mouse neocortex.
Progenitor cell diversity in the developing mouse neocortex. Proc Natl Acad Sci U S A. 2021 03 09; 118(10).
PMID: 33649223

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med. 2020 06; 22(6):1040-1050.
PMID: 32103185

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224.
PMID: 28714951

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25; 166(5):1147-1162.e15.
PMID: 27565344

View All Publications