skip to main content
DOE PAGES title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: Germline Chd8 haploinsufficiency alters brain development in mouse

Abstract

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8+/del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8+/del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8+/del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes and neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8+/del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.

Authors:
 [1]; ORCiD logo [1];  [2];  [3];  [4];  [1];  [3];  [3]; ORCiD logo [1]; ORCiD logo [1];  [1]; ORCiD logo [1];  [4];  [5];  [5];  [5]; ORCiD logo [6];  [7];  [5];  [8] more »;  [3];  [4];  [3]; ORCiD logo [1] « less
  1. Univ. of California, Davis, CA (United States). Dept. of Psychiatry and Behavioral Sciences. Dept. of Neurobiology, Physiology and Behavior
  2. The Hospital for Sick Children, Toronto, ON (Canada). Mouse Imaging Centre
  3. Univ. of California, Davis, CA (United States). Dept. of Psychiatry and Behavioral Sciences. MIND Inst. School of Medicine
  4. Univ. of California, Davis, Sacramento, CA (United States). Dept. of Pathology and Laboratory Medicine. Shriners Hospitals for Children. Inst. for Pediatric Regenerative Medicine
  5. Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Functional Genomics Dept.
  6. Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Functional Genomics Dept.; USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Univ. of California, Merced, CA (United States). School of Natural Sciences
  7. Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Functional Genomics Dept.; USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States)
  8. The Hospital for Sick Children, Toronto, ON (Canada). Mouse Imaging Centre; Univ. of Toronto, ON (Canada). Dept. of Medical Biophysics
Publication Date:
Research Org.:
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Sponsoring Org.:
USDOE; Univ. of California, Davis (United States); National Inst. of Health (NIH) (United States); National Council for Scientific and Technological Development (CNPq) (Brazil); Canadian Inst. for Health Research (CIHR)
OSTI Identifier:
1436635
Grant/Contract Number:  
AC02-05CH11231; U54 HD079125; NIGMS R35 GM119831; T32-GM008799; T32-GM007377; R24HL123879; U01DE024427; R01HG003988; U54HG006997; UM1HL098166
Resource Type:
Accepted Manuscript
Journal Name:
Nature Neuroscience
Additional Journal Information:
Journal Volume: 20; Journal Issue: 8; Journal ID: ISSN 1097-6256
Publisher:
Springer Nature
Country of Publication:
United States
Language:
English
Subject:
60 APPLIED LIFE SCIENCES; autism spectrum disorders; functional genomics; neuronal development

Citation Formats

Gompers, Andrea L., Su-Feher, Linda, Ellegood, Jacob, Copping, Nycole A., Riyadh, M. Asrafuzzaman, Stradleigh, Tyler W., Pride, Michael C., Schaffler, Melanie D., Wade, A. Ayanna, Catta-Preta, Rinaldo, Zdilar, Iva, Louis, Shreya, Kaushik, Gaurav, Mannion, Brandon J., Plajzer-Frick, Ingrid, Afzal, Veena, Visel, Axel, Pennacchio, Len A., Dickel, Diane E., Lerch, Jason P., Crawley, Jacqueline N., Zarbalis, Konstantinos S., Silverman, Jill L., and Nord, Alex S. Germline Chd8 haploinsufficiency alters brain development in mouse. United States: N. p., 2017. Web. doi:10.1038/nn.4592.
Gompers, Andrea L., Su-Feher, Linda, Ellegood, Jacob, Copping, Nycole A., Riyadh, M. Asrafuzzaman, Stradleigh, Tyler W., Pride, Michael C., Schaffler, Melanie D., Wade, A. Ayanna, Catta-Preta, Rinaldo, Zdilar, Iva, Louis, Shreya, Kaushik, Gaurav, Mannion, Brandon J., Plajzer-Frick, Ingrid, Afzal, Veena, Visel, Axel, Pennacchio, Len A., Dickel, Diane E., Lerch, Jason P., Crawley, Jacqueline N., Zarbalis, Konstantinos S., Silverman, Jill L., & Nord, Alex S. Germline Chd8 haploinsufficiency alters brain development in mouse. United States. doi:10.1038/nn.4592.
Gompers, Andrea L., Su-Feher, Linda, Ellegood, Jacob, Copping, Nycole A., Riyadh, M. Asrafuzzaman, Stradleigh, Tyler W., Pride, Michael C., Schaffler, Melanie D., Wade, A. Ayanna, Catta-Preta, Rinaldo, Zdilar, Iva, Louis, Shreya, Kaushik, Gaurav, Mannion, Brandon J., Plajzer-Frick, Ingrid, Afzal, Veena, Visel, Axel, Pennacchio, Len A., Dickel, Diane E., Lerch, Jason P., Crawley, Jacqueline N., Zarbalis, Konstantinos S., Silverman, Jill L., and Nord, Alex S. Mon . "Germline Chd8 haploinsufficiency alters brain development in mouse". United States. doi:10.1038/nn.4592. https://www.osti.gov/servlets/purl/1436635.
@article{osti_1436635,
title = {Germline Chd8 haploinsufficiency alters brain development in mouse},
author = {Gompers, Andrea L. and Su-Feher, Linda and Ellegood, Jacob and Copping, Nycole A. and Riyadh, M. Asrafuzzaman and Stradleigh, Tyler W. and Pride, Michael C. and Schaffler, Melanie D. and Wade, A. Ayanna and Catta-Preta, Rinaldo and Zdilar, Iva and Louis, Shreya and Kaushik, Gaurav and Mannion, Brandon J. and Plajzer-Frick, Ingrid and Afzal, Veena and Visel, Axel and Pennacchio, Len A. and Dickel, Diane E. and Lerch, Jason P. and Crawley, Jacqueline N. and Zarbalis, Konstantinos S. and Silverman, Jill L. and Nord, Alex S.},
abstractNote = {The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8+/del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8+/del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8+/del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes and neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8+/del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.},
doi = {10.1038/nn.4592},
journal = {Nature Neuroscience},
number = 8,
volume = 20,
place = {United States},
year = {2017},
month = {6}
}

Journal Article:
Free Publicly Available Full Text
Publisher's Version of Record

Citation Metrics:
Cited by: 27 works
Citation information provided by
Web of Science

Save / Share:

Works referenced in this record:

Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology
journal, January 2011


Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
journal, November 2013


Mouse neurexin-1  deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
journal, October 2009

  • Etherton, M. R.; Blaiss, C. A.; Powell, C. M.
  • Proceedings of the National Academy of Sciences, Vol. 106, Issue 42
  • DOI: 10.1073/pnas.0910297106

Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen
journal, September 2012


Distinct molecular phenotype of inflammatory breast cancer compared to non-inflammatory breast cancer using Affymetrix-based genome-wide gene-expression analysis
journal, September 2007

  • Van Laere, S.; Van der Auwera, I.; Van den Eynden, G.
  • British Journal of Cancer, Vol. 97, Issue 8
  • DOI: 10.1038/sj.bjc.6603967

Early Embryonic Death in Mice Lacking the  -Catenin-Binding Protein Duplin
journal, September 2004


Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity
journal, September 2014

  • Ellegood, J.; Anagnostou, E.; Babineau, B. A.
  • Molecular Psychiatry, Vol. 20, Issue 1
  • DOI: 10.1038/mp.2014.98

RSeQC: quality control of RNA-seq experiments
journal, June 2012


CHD8 haploinsufficiency results in autistic-like phenotypes in mice
journal, September 2016

  • Katayama, Yuta; Nishiyama, Masaaki; Shoji, Hirotaka
  • Nature, Vol. 537, Issue 7622
  • DOI: 10.1038/nature19357

Unusual repertoire of vocalizations in adult BTBR T+tf/J mice during three types of social encounters
journal, July 2010


STAR: ultrafast universal RNA-seq aligner
journal, October 2012


Optimal strategies for measuring diffusion in anisotropic systems by magnetic resonance imaging
journal, September 1999


Preparation of fixed mouse brains for MRI
journal, April 2012


Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
journal, December 2016

  • Parikshak, Neelroop N.; Swarup, Vivek; Belgard, T. Grant
  • Nature, Vol. 540, Issue 7633
  • DOI: 10.1038/nature20612

Fast and accurate short read alignment with Burrows-Wheeler transform
journal, May 2009


Rapid and Pervasive Changes in Genome-wide Enhancer Usage during Mammalian Development
journal, December 2013


A General Framework for Weighted Gene Co-Expression Network Analysis
journal, January 2005

  • Zhang, Bin; Horvath, Steve
  • Statistical Applications in Genetics and Molecular Biology, Vol. 4, Issue 1
  • DOI: 10.2202/1544-6115.1128

Hallmarks of Alzheimer’s Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain
journal, March 2017


Long-term exposure to intranasal oxytocin in a mouse autism model
journal, November 2014

  • Bales, K. L.; Solomon, M.; Jacob, S.
  • Translational Psychiatry, Vol. 4, Issue 11
  • DOI: 10.1038/tp.2014.117

WGCNA: an R package for weighted correlation network analysis
journal, December 2008


GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism
journal, March 2015

  • Silverman, J. L.; Pride, M. C.; Hayes, J. E.
  • Neuropsychopharmacology, Vol. 40, Issue 9
  • DOI: 10.1038/npp.2015.66

Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology
journal, September 2014

  • Orosco, Lori A.; Ross, Adam P.; Cates, Staci L.
  • Nature Communications, Vol. 5, Issue 1
  • DOI: 10.1038/ncomms5692

Anatomical phenotyping in the brain and skull of a mutant mouse by magnetic resonance imaging and computed tomography
journal, February 2006


Thresholding of Statistical Maps in Functional Neuroimaging Using the False Discovery Rate
journal, April 2002

  • Genovese, Christopher R.; Lazar, Nicole A.; Nichols, Thomas
  • NeuroImage, Vol. 15, Issue 4
  • DOI: 10.1006/nimg.2001.1037

Behavioural methods used in rodent models of autism spectrum disorders: Current standards and new developments
journal, August 2013


Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
journal, November 2013


Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease
journal, June 2008


Genetic Effects on Cerebellar Structure Across Mouse Models of Autism Using a Magnetic Resonance Imaging Atlas: MRI of genetic mouse model's cerebellum
journal, October 2013

  • Steadman, Patrick E.; Ellegood, Jacob; Szulc, Kamila U.
  • Autism Research, Vol. 7, Issue 1
  • DOI: 10.1002/aur.1344

Genetic studies in intellectual disability and related disorders
journal, October 2015

  • Vissers, Lisenka E. L. M.; Gilissen, Christian; Veltman, Joris A.
  • Nature Reviews Genetics, Vol. 17, Issue 1
  • DOI: 10.1038/nrg3999

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
journal, November 2013


Agenesis of the corpus callosum in Nogo receptor deficient mice: CC Agenesis in Nogo Receptor Deficient Mice
journal, July 2016

  • Yoo, Seung-Wan; Motari, Mary G.; Schnaar, Ronald L.
  • Journal of Comparative Neurology, Vol. 525, Issue 2
  • DOI: 10.1002/cne.24064

Influence of stimulant-induced hyperactivity on social approach in the BTBR mouse model of autism
journal, May 2013


Behavioral assessment of NIH Swiss mice acutely intoxicated with tetramethylenedisulfotetramine
journal, January 2015

  • Flannery, Brenna M.; Silverman, Jill L.; Bruun, Donald A.
  • Neurotoxicology and Teratology, Vol. 47
  • DOI: 10.1016/j.ntt.2014.10.008

Synaptic, transcriptional and chromatin genes disrupted in autism
journal, October 2014

  • De Rubeis, Silvia; He, Xin; Goldberg, Arthur P.
  • Nature, Vol. 515, Issue 7526
  • DOI: 10.1038/nature13772

Glucose Intolerance in Aging Male IGFBP-3 Transgenic Mice: Differential Effects of Human IGFBP-3 and Its Mutant IGFBP-3 Devoid of IGF Binding Ability
journal, February 2015

  • Nguyen, K. Hoa; Yao, Xing-Hai; Erickson, Adam G.
  • Endocrinology, Vol. 156, Issue 2
  • DOI: 10.1210/en.2014-1271

Fast spin-echo for multiple mouse magnetic resonance phenotyping
journal, January 2005

  • Nieman, Brian J.; Bock, Nicholas A.; Bishop, Johnathan
  • Magnetic Resonance in Medicine, Vol. 54, Issue 3
  • DOI: 10.1002/mrm.20590

The discovery of integrated gene networks for autism and related disorders
journal, November 2014

  • Hormozdiari, Fereydoun; Penn, Osnat; Borenstein, Elhanan
  • Genome Research, Vol. 25, Issue 1
  • DOI: 10.1101/gr.178855.114

Automatic 3D Intersubject Registration of MR Volumetric Data in Standardized Talairach Space
journal, January 1994


The contribution of de novo coding mutations to autism spectrum disorder
journal, October 2014

  • Iossifov, Ivan; O’Roak, Brian J.; Sanders, Stephan J.
  • Nature, Vol. 515, Issue 7526
  • DOI: 10.1038/nature13908

Chromatin remodelling during development
journal, January 2010


Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
journal, September 2015


RSAT 2015: Regulatory Sequence Analysis Tools
journal, April 2015

  • Medina-Rivera, Alejandra; Defrance, Matthieu; Sand, Olivier
  • Nucleic Acids Research, Vol. 43, Issue W1
  • DOI: 10.1093/nar/gkv362

Gene ontology analysis for RNA-seq: accounting for selection bias
journal, January 2010

  • Young, Matthew D.; Wakefield, Matthew J.; Smyth, Gordon K.
  • Genome Biology, Vol. 11, Issue 2
  • DOI: 10.1186/gb-2010-11-2-r14

Full UPF3B function is critical for neuronal differentiation of neural stem cells
journal, May 2015


Transcriptomic analysis of autistic brain reveals convergent molecular pathology
journal, May 2011

  • Voineagu, Irina; Wang, Xinchen; Johnston, Patrick
  • Nature, Vol. 474, Issue 7351
  • DOI: 10.1038/nature10110

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
journal, November 2009


Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism
journal, April 2012


Chromatin modifiers and remodellers: regulators of cellular differentiation
journal, December 2013

  • Chen, Taiping; Dent, Sharon Y. R.
  • Nature Reviews Genetics, Vol. 15, Issue 2
  • DOI: 10.1038/nrg3607

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
journal, October 1997

  • Rogers, Derek C.; Fisher, E. M. C.; Brown, S. D. M.
  • Mammalian Genome, Vol. 8, Issue 10
  • DOI: 10.1007/s003359900551

Group I metabotropic glutamate receptor antagonists alter select behaviors in a mouse model for fragile X syndrome
journal, June 2011


Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits
journal, April 2017


SPARC-like 1 (SC1) is a diversely expressed and developmentally regulated matricellular protein that does not compensate for the absence of SPARC in the CNS
journal, June 2012

  • Lloyd-Burton, Samantha; Roskams, A. Jane
  • The Journal of Comparative Neurology, Vol. 520, Issue 12
  • DOI: 10.1002/cne.23029

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
journal, July 2011


CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
journal, October 2014

  • Sugathan, Aarathi; Biagioli, Marta; Golzio, Christelle
  • Proceedings of the National Academy of Sciences, Vol. 111, Issue 42
  • DOI: 10.1073/pnas.1405266111

A Novel and Multivalent Role of Pax6 in Cerebellar Development
journal, August 2016


A reproducible evaluation of ANTs similarity metric performance in brain image registration
journal, February 2011


Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
journal, July 2014


Loss of neural recognition molecule NB-3 delays the normal projection and terminal branching of developing corticospinal tract axons in the mouse
journal, February 2012

  • Huang, Zhenhui; Yu, Yang; Shimoda, Yasushi
  • The Journal of Comparative Neurology, Vol. 520, Issue 6
  • DOI: 10.1002/cne.22772

From neural development to cognition: unexpected roles for chromatin
journal, April 2013

  • Ronan, Jehnna L.; Wu, Wei; Crabtree, Gerald R.
  • Nature Reviews Genetics, Vol. 14, Issue 5
  • DOI: 10.1038/nrg3413

Analysis and design of RNA sequencing experiments for identifying isoform regulation
journal, November 2010

  • Katz, Yarden; Wang, Eric T.; Airoldi, Edoardo M.
  • Nature Methods, Vol. 7, Issue 12
  • DOI: 10.1038/nmeth.1528

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool
journal, January 2013


Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes
journal, January 2016


Fiji: an open-source platform for biological-image analysis
journal, June 2012

  • Schindelin, Johannes; Arganda-Carreras, Ignacio; Frise, Erwin
  • Nature Methods, Vol. 9, Issue 7
  • DOI: 10.1038/nmeth.2019

16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks
journal, November 2015


Basic local alignment search tool
journal, October 1990

  • Altschul, Stephen F.; Gish, Warren; Miller, Webb
  • Journal of Molecular Biology, Vol. 215, Issue 3, p. 403-410
  • DOI: 10.1016/S0022-2836(05)80360-2

High resolution three-dimensional brain atlas using an average magnetic resonance image of 40 adult C57Bl/6J mice
journal, August 2008


First glimpses of the neurobiology of autism spectrum disorder
journal, August 2015


De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
journal, April 2014

  • McCarthy, S. E.; Gillis, J.; Kramer, M.
  • Molecular Psychiatry, Vol. 19, Issue 6
  • DOI: 10.1038/mp.2014.29

The adipogenic transcriptional cofactor ZNF638 interacts with splicing regulators and influences alternative splicing
journal, July 2014

  • Du, Chen; Ma, Xinran; Meruvu, Sunitha
  • Journal of Lipid Research, Vol. 55, Issue 9
  • DOI: 10.1194/jlr.M047555

Low stress reactivity and neuroendocrine factors in the BTBR T+tf/J mouse model of autism
journal, December 2010


Isolated heart perfusion according to Langendorff—Still viable in the new millennium
journal, March 2007

  • Skrzypiec-Spring, Monika; Grotthus, Bartosz; Szeląg, Adam
  • Journal of Pharmacological and Toxicological Methods, Vol. 55, Issue 2
  • DOI: 10.1016/j.vascn.2006.05.006

Symmetric diffeomorphic image registration with cross-correlation: Evaluating automated labeling of elderly and neurodegenerative brain
journal, February 2008


FMR1 premutation and full mutation molecular mechanisms related to autism
journal, May 2011

  • Hagerman, Randi; Au, Jacky; Hagerman, Paul
  • Journal of Neurodevelopmental Disorders, Vol. 3, Issue 3
  • DOI: 10.1007/s11689-011-9084-5

Delay and trace fear conditioning in C57BL/6 and DBA/2 mice: issues of measurement and performance
journal, July 2014

  • Tipps, Megan E.; Raybuck, Jonathan D.; Buck, Kari J.
  • Learning & Memory, Vol. 21, Issue 8
  • DOI: 10.1101/lm.035261.114

STRING 8--a global view on proteins and their functional interactions in 630 organisms
journal, January 2009

  • Jensen, L. J.; Kuhn, M.; Stark, M.
  • Nucleic Acids Research, Vol. 37, Issue Database
  • DOI: 10.1093/nar/gkn760

RNA-Guided Human Genome Engineering via Cas9
journal, January 2013


Marble burying reflects a repetitive and perseverative behavior more than novelty-induced anxiety
journal, February 2009


Behavioural phenotyping assays for mouse models of autism
journal, July 2010

  • Silverman, Jill L.; Yang, Mu; Lord, Catherine
  • Nature Reviews Neuroscience, Vol. 11, Issue 7
  • DOI: 10.1038/nrn2851

Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling
journal, October 2016

  • Durak, Omer; Gao, Fan; Kaeser-Woo, Yea Jin
  • Nature Neuroscience, Vol. 19, Issue 11
  • DOI: 10.1038/nn.4400

The Reactome pathway knowledgebase
journal, November 2013

  • Croft, David; Mundo, Antonio Fabregat; Haw, Robin
  • Nucleic Acids Research, Vol. 42, Issue D1
  • DOI: 10.1093/nar/gkt1102

Development of MRI-based atlases of non-human brains: Development of MRI brain atlases
journal, October 2014

  • Ullmann, Jeremy F. P.; Janke, Andrew L.; Reutens, David
  • Journal of Comparative Neurology, Vol. 523, Issue 3
  • DOI: 10.1002/cne.23678

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
journal, March 2015

  • Cotney, Justin; Muhle, Rebecca A.; Sanders, Stephan J.
  • Nature Communications, Vol. 6, Issue 1
  • DOI: 10.1038/ncomms7404

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex
journal, August 2016


Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice
journal, June 2008

  • Chadman, Kathryn K.; Gong, Shiaoching; Scattoni, Maria L.
  • Autism Research, Vol. 1, Issue 3
  • DOI: 10.1002/aur.22

Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder
journal, August 2015


Using MACS to Identify Peaks from ChIP-Seq Data
journal, June 2011


    Works referencing / citing this record:

    The ASD Living Biology: from cell proliferation to clinical phenotype
    journal, June 2018

    • Courchesne, Eric; Pramparo, Tiziano; Gazestani, Vahid H.
    • Molecular Psychiatry, Vol. 24, Issue 1
    • DOI: 10.1038/s41380-018-0056-y

    The ASD Living Biology: from cell proliferation to clinical phenotype
    journal, June 2018

    • Courchesne, Eric; Pramparo, Tiziano; Gazestani, Vahid H.
    • Molecular Psychiatry, Vol. 24, Issue 1
    • DOI: 10.1038/s41380-018-0056-y