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ACE Publications

Our Center has published more than 170 research articles on the topic of autism in leading journals such as Science, New England Journal of Medicine, Proceedings of the National Academy of Sciences, and the Journal of the American Medical Association.

Our center publishes research findings that capitalize on a wide range of research techniques and span many topics in autism. For example, our research studies examine behavior using eye tracking technology, brain imaging using magnetic resonance imaging (MRI) and genetics.

2020

Large-scale Targeted Sequencing Identifies Risk Genes for Neurodevelopmental DisordersJAMA Peds

Tianyun Wang,  Karen Pierce, Eric Courchesne. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Nat Commun. 2020; 11: 4932. Published online 2020 Oct 1. doi: 10.1038/s41467-020-18723-y
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Prenatal Origins of ASD: The When, What, and How of ASD Development JAMA Peds

Eric Courchesne , Vahid H Gazestani , Nathan E Lewis Prenatal Origins of ASD: The When, What, and How of ASD Development. Trends Neurosci. 2020 May;43(5):326-342. doi: 10.1016/j.tins.2020.03.005.
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Identifying Prognostic Markers in Autism Spectrum Disorder Using Eye Tracking.  JAMA Peds

Bacon E.C., Moore A., Lee Q., Carter Barnes C., Courchesne E., Pierce K. Identifying prognostic markers in autism spectrum disorder using eye tracking. Autism. 2020 Apr;24(3):658-669. doi: 10.1177/1362361319878578.PDF

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Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.JAMA Peds

Fombonne E, Green Snyder L, Daniels A, Feliciano P, Chung W; SPARK Consortium. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort [published online ahead of print, 2020 Feb 24]. J Autism Dev Disord. 2020;10.1007/s10803-020-04414-6. doi:10.1007/s10803-020-04414-6 PDF.

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JAMA Peds
Beliefs in Vaccine as Causes of Autism Among SPARK Cohort Caregive.

Fombonne E, Goin-Kochel RP, O'Roak BJ; SPARK Consortium. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine. 2020 Feb 11;38(7):1794–1803. doi:10.1016/j.vaccine.2019.12.026 PDF.

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JAMA Peds

Default Mode-visual network hypoconnectivity in an autism subtype with pronounced social visual engagement difficulties 

Lombardo M.V., Eyler L., Moore A., Datko M., Carter Barnes C., Cha D., Courchesne E., Pierce K.  Default mode-visual network hypoconnectivity in an autism subtype with pronounced social visual engagement difficultiesElife2019 Dec 17;8.  doi: 10.7554/eLife.47427.. PDF.

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JAMA Peds

Clinical Practice Guideline for the Diagnosis, Evaluation, and Treatment of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents.

Wolraich ML, Hagan JF, Allan C, et al; Subcommittee on Children and Adolescents with Attention-Deficit/Hyperactive Disorder. Clinical Practice Guideline for the Diagnosis, Evaluation, and Treatment of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents. Pediatrics. 2019;144(4). doi: 10.1542/peds.2019-2528. PDF.

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JAMA Peds A Perturbed Gene Network Containing PI3K-AKT, RAS-ERK and WNT-B-catenin Pathways in Leukocytes is Linked to ASD Genetics and Symptom Severity. 

Gazestani, V.H., Pramparo, T., Nalabolu, S., Kellman, B.P., Murray, S., Lopez, L., Pierce, K., Courchesne, E., Lewis, N.E. A Perturbed Gene Network Containing PI3K-AKT, RAS-ERK and WNT-B-catenin Pathways in Leukocytes is Linked to ASD Genetics and Symptom Severity.    Nature Neuroscience 22, 1624-1634 (2019). doi:10.1038/s41593-019-0489-x.PDF.

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JAMA Peds
Evaluation of the Diagnostic Stability of the Early Autism Spectrum Disorder Phenotype in the General Population Starting at 12 Months.

Pierce, K., Gazestani, V.H., Bacon, E., Barnes, C.C., Cha, D., Nalabolu, S., Lopez, L., Moore, A., Pence-Stophaeros, S., Courchesne, E. Evaluation of the Diagnostic Stability of the Early Autism Spectrum Disorder Phenotype in the General Population Starting at 12 Months. JAMA    Pediatr.  Published online April 29, 2019. doi:10.1001/jamapediatrics.2019.0624.PDF.

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Big Data Approaches to Decomposing Heterogeneity Across the Autism Spectrum.

Lombardo, M. V., Lai, M., & Baron-Cohen, S. (2019). Big data approaches to decomposing heterogeneity across the autism spectrum. Molecular Psychiatry. doi:10.1038/s41380-018-0321-0. PDF.

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2018
Molecular Psychiatry
The ASD Living Biology: From cell proliferation to clinical phenotype.

Courchesne, E., Pramparo, T., Gazestani, V. H., Lombardo, M. V., Pierce, K., & Lewis, N. E. (2018).The ASD Living Biology: From cell proliferation to clinical phenotype. Molecular Psychiatry, 24(1), 88-107. doi:10.1038/s41380-018-0056-y PDF.

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Molecular Autism
The Geometric Preference Subtype in ASD: Identifying a Consistent, Early-Emerging Phenomenon Through Eye Tracking.

Moore, A., Wozniak, M., Yousef, A., Barnes, C. C., Cha, D., Courchesne, E., & Pierce, K. (2018). The geometric preference subtype in ASD: identifying a consistent, early-emerging phenomenon through eye tracking. Molecular Autism, 9, 19. PMID: 29581878. PDF.

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2017
Development and Psychopathology
Rethinking the Idea of Late Autism Spectrum Disorder Onset. 

Bacon, E. C., Courchesne, E., Barnes, C. C., Cha, D., Pence, S., Schreibman, L., Stahmer, A. & Pierce, K. (2017). Rethinking the idea of late autism spectrum disorder onset. Development and psychopathology, 1-17. PMID: 28803559. PDF.

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Cortex
Toddlers Later Diagnosed with Autism Exhibit Structural Abnormalities in Temporal, Frontal, and Occipital Corpus Callosum Fibers.

Fingher, N., Dinstein, I., Ben-Shachar, M., Haar, S., Dale, A. M., Eyler, L., Pierce, K., Dale, A. & Courchesne, E. (2017). Toddlers later diagnosed with autism exhibit multiple structural abnormalities in temporal corpus callosum fibers. Cortex, 97, 291-305. PMID: 28202133. PDF.

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Heirarchical Cortical Transcriptome Disorganization in Autism.

Lombardo, M. V., Courchesne, E., Lewis, N. E., & Pramparo, T. (2017). Hierarchical cortical transcriptome disorganization in autism. Molecular autism, 8(1), 29. PMID: 28649314. PDF

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Maternal Immune Activation Dysregulation of the Fetal Brain Transcriptome and Relevance to the Pathophysiology of Autism Spectrum Disorder.

Lombardo, M. V., Moon, H. M., Su, J., Palmer, T. D., Courchesne, E., & Pramparo, T. (2017). Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder. Molecular psychiatry. PMID: 28322282. 

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2016
To Screen or Not to Screen for ASD Universally is Not the Question: Why the Task Force Got it Wrong.

Pierce K, Courchesne E, Bacon E.  To Screen or Not to Screen for ASD Universally is Not the Question: Why the Task Force Got it Wrong. The Journal of pediatrics. 2016;176:182-194. doi:10.1016/j.jpeds.2016.06.004. PDF.

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Diffusion Tensor Imaging Provides Evidence of Possible Axonal Overconnectivity in Frontal Lobes in Autism Spectrum Disorder Toddlers.

Solso, S., Xu, R., Proudfoot, J., Hagler, D. J., Campbell, K., Venkatraman, V., ... & Eyler, L. (2016). Diffusion tensor imaging provides evidence of possible axonal overconnectivity in frontal lobes in autism spectrum disorder toddlers. Biological psychiatry, 79(8), 676-684. PMID: 26300272. 

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2015
Biological Psychiatry
Eye Tracking Reveals Abnormal Visual Preference for Geometric Images as an Early Biomarker of an Autism Spectrum Disorder Subtype Associated with Increased Symptom Severity.

Pierce K, Marinero S, Hazin R, McKenna B, Barnes C, Malige A. Eye Tracking Reveals Abnormal Visual Preference for Geometric Images as an Early Biomarker of an Autism Spectrum Disorder Subtype Associated with Increased Symptom Severity. Biological Psychiatry. 2015 Apr 11. doi:        10.1016/j.biopsych.2015.03.032. PDF.

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JAMA Psychiatry
Prediction of Autism by translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community.

Pramparo T, Pierce K, Lombardo MV, et al. Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community Practices. JAMA Psychiatry. Published online March 04, 2015. doi:10.1001/jamapsychiatry.2014.300     PDF

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Different Functional Neural Substrates for Good and Poor Language Outcome in Autism.

Lombardo, M., Pierce, K., Eyler, L., Barnes, C, Ahrens-Barbeau, C., Solso, S., Campbell, K., & Courchesne, E. (2015). Different functional neural substrates for good and poor language outcome in autism. Neuron, 86(2), 567-577. PDF.

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2014
PubMed Article
Measuring Outcomes in an Early Intervention Program for Young Children with Autism Spectrum Disorder:  Use of a Curriculum-Based Assessment.

Bacon, L., Dufek, S., Schreibman, L. Stahmer, A., Pierce, K. and Courchesne, E. (2014). Measuring Outcomes in an Early Intervention Program for Young Children with Autism Spectrum Disorder: Use of a Curriculum-Based Assessment. Autism Research and Treatment.  PMID:          24711926, PMCID: PMC3966353. 

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NewEngland JM logo
Patches of Disorganization in the Neocortex of Children with Autism.

Rich Stoner, Maggie L. Chow, Maureen P. Boyle, Susan M. Sunkin, Peter R. Mouton, Subhojit Roy, Anthony Wynshaw-Boris, Sophia A. Colamarino, Ed S. Lein, and Eric Courchesne. Patches of Disorganization in the Neocortex of Children with  Autism.N  Engl J Med. 2014 Mar 27;        370:1209-19. DOI: 10.1056/NEJMoa1307491. PDF.

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2012
NewEngland JM logo
Blood-based Gene Expression Signatures of Infants and Toddlers with Autism.

Glatt SJ, Tsuang MT, Winn M, Chandler SD, Collins M, Lopez L, Weinfeld M, Carter C, Schork N, Pierce K, Courchesne E. Blood-based gene expression signatures of infants and toddlers with autism. J Am Acad Child Adolesc Psychiatry. 2012 Sep;51(9):934-44.e2. doi: 10.1016/j.jaac.2012.07.007. Epub 2012 Aug 2. PDF.   

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NewEngland JM logo
Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism.

Morgan, JT, Chana G, Abramson I, Semendeferi K, Courchesne E, Everall IP. Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism. Brain Res. 2012 May 25:1456:72-81. doi: 10.1016/j.brainres.2012.03.036. Epub 2012 Mar 23. PDF.  

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NewEngland JM logo
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. 

Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus    mature ages. PLoS Gen. 2012;8(3).doi: 10.1371/journal.pgen.1002592. Epub 2012 Mar 22. 

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NewEngland JM logo
Preprocessing and Quality Control Strategies for Illumina DASL Assay-Based Brain Gene Expression Studies with Semi-Degraded Samples. 

Chow ML, Winn ME, Li HR, April C, Wynshaw-Boris A, Fan JB, Fu XD, Courchesne E, Schork NJ. Preprocessing and Quality Control Strategies for Illumina DASL Assay-Based Brain Gene Expression Studies with Semi-Degraded Samples. Front Genet. 2012;3:11. doi:   10.3389/fgene.2012.00011. 

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NewEngland JM logo
A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism. 

Eyler LT, Pierce K, Courchesne E. A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism. Brain. 2012 Mar;135(Pt 3):949-60. doi: 10.1093/brain/awr364. Epub 2012 Feb 20.  PDF.        

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2011
Courchesne E, Mouton PR, Calhoun ME, Semendeferi K, Ahrens-Barbeau C, Hallet MJ, Barnes CC, Pierce K. Neuron number and size in prefrontal cortex of children with autism. JAMA. 2011 Nov 9;306(18):2001-10. PubMed PMID: 22068992.

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2010

Morgan, J.T., Chana, G., Pardo, C.A., Achim, C., Semendeferi, K., Buckwalter, J., Courchesne, E., Everall, I.P. Microglial Activation and Increased Microglial Density Observed in the Dorsolateral Prefrontal Cortex in Autism. Biological Psychiatry, 15;68(4):368-376, 2010.

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2009
Luyster, R., Gotham, K., Guthrie, W., Coffing, M., Petrak, R., DiLavore, P., Pierce, K., Bishop, S., Esler, A., Hus, V., Richler, J., Risi, S., and Lord, C. Autism Diagnostic Observation Schedule Toddler Module: A new module of a standardized diagnostic measure for autism spectrum disorders. Journal Autism Developmental Disorders. 39(9)1305-1320, 2009.

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2008

Morgan, J., Chana, G., Buckwalter, J., Courchesne, E., Everall, I. Increased Iba-1 positive microglial cell density in the autistic brain. Biological Psychiatry, 63(7):197S-197S, 2008.

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2007
Gaffrey, M.S., Kleinhans, N.M., Haist, F., Akshoomoff, N., Campbell, A., Courchesne, E., Muller, R.A. A typical participation of visual cortex during word processing in autism: An fMRI study of semantic decision. Neuropsychologia, 45(8):1672-84, 2007. Epub 2007 Jan 16.

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2006
Kennedy, D.P., Redcay, E., Courchesne, E. Failing to deactivate: resting functional abnormalities in autism. Proceedings of the National Academy of Sciences U S A, 103(21):8275-80, 2006. Epub 2006 May 15.

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2005
Carper, R.A. and Courchesne, E. Localized enlargement of the frontal cortex in early autism. Biological Psychiatry, 57:126-133, 2005.

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2004
Pierce, K., Haist, F., Sedaghat, F., & Courchesne, E., 2004. The brain response to personally familiar faces in autism: findings of fusiform activity and beyond. Brain, 2004 127(Pt 12):2703-16.

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2003
Muller, R-A., Kleinhans, N., Kemmotsu, N., Pierce, K., Courchesne, E. Abnormal variability and distribution of functional maps in autism: an fMRI study of visuomotor learning. American Journal of Psychiatry, 160(10):1847-62, 2003.

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2002
Makeig, S, Westerfield, M, Jung, T-P, Enghoff, S, Townsend, J, Courchesne, E, Sejnowski, TJ. Dynamic brain sources of visual evoked responses. Science, 295(5555), 690-694, 2002.

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2001
Pierce, K., Muller, R.A., Ambrose, J., Allen, G., Courchesne, E. Face processing occurs outside the fusiform ‘face area’ in autism: Evidence from functional MRI. Brain, 124:2059-2073, 2001.

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2000
Courchesne, E. And Pierce, K. An inside look at the neurobiology, etiology, and future research of autism. Advocate, pp.18-22, 2000.

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1990s
Ciesielski, K.T., Courchesne, E. and Elmasian, R. Effects of focused selective attention tasks on event-related potentials in autistic and normal individuals. Electroencephalography and Clinical Neurophysiology, 75:207-220, 1990.

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1980s
Woods, D.L., Courchesne, E., Hillyard, S.A. and Galambos, R. Split-second recovery of the P3 component in multiple decision tasks. In: H.H. Kornhuber and L. Deecke (Eds.). Progress in Brain Research. Vol. 54: Motivation, Motor and Sensory Processes of the Brain. Elsevier/North-Holland Biomedical Press: Amsterdam, pp. 322-330, 1980.

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1970s
Courchesne, E. and Barlow, G.W. Effect of isolation on components of aggressive and other behavior in the hermit crab, Pagurus samuelis. Z. vergl. Physiologie. 75:32-48, 1971.

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