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A perturbed gene network containing PI3K-AKT, RAS-ERK and WNT-β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity.

Gazestani VH, Pramparo T, Nalabolu S, Kellman BP, Murray S, Lopez L, Pierce K, Courchesne E, Lewis NE.

Nat Neurosci. 2019 Oct;22(10):1624-1634. doi: 10.1038/s41593-019-0489-x. Epub 2019 Sep 23.


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

Pierce K, Gazestani VH, Bacon E, Barnes CC, Cha D, Nalabolu S, Lopez L, Moore A, Pence-Stophaeros S, Courchesne E.

JAMA Pediatr. 2019 Jun 1;173(6):578-587. doi: 10.1001/jamapediatrics.2019.0624. Erratum in: JAMA Pediatr. 2019 Jun 24;:.


Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.

Lombardo MV, Pramparo T, Gazestani V, Warrier V, Bethlehem RAI, Carter Barnes C, Lopez L, Lewis NE, Eyler L, Pierce K, Courchesne E.

Nat Neurosci. 2018 Dec;21(12):1680-1688. doi: 10.1038/s41593-018-0281-3. Epub 2018 Nov 26.


The ASD Living Biology: from cell proliferation to clinical phenotype.

Courchesne E, Pramparo T, Gazestani VH, Lombardo MV, Pierce K, Lewis NE.

Mol Psychiatry. 2019 Jan;24(1):88-107. doi: 10.1038/s41380-018-0056-y. Epub 2018 Jun 22. Review.


Naturalistic language sampling to characterize the language abilities of 3-year-olds with autism spectrum disorder.

Bacon EC, Osuna S, Courchesne E, Pierce K.

Autism. 2019 Apr;23(3):699-712. doi: 10.1177/1362361318766241. Epub 2018 May 14.


Paternally inherited cis-regulatory structural variants are associated with autism.

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J.

Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.


The geometric preference subtype in ASD: identifying a consistent, early-emerging phenomenon through eye tracking.

Moore A, Wozniak M, Yousef A, Barnes CC, Cha D, Courchesne E, Pierce K.

Mol Autism. 2018 Mar 21;9:19. doi: 10.1186/s13229-018-0202-z. eCollection 2018.


Rethinking the idea of late autism spectrum disorder onset.

Bacon EC, Courchesne E, Barnes CC, Cha D, Pence S, Schreibman L, Stahmer AC, Pierce K.

Dev Psychopathol. 2018 May;30(2):553-569. doi: 10.1017/S0954579417001067. Epub 2017 Aug 14.


Hierarchical cortical transcriptome disorganization in autism.

Lombardo MV, Courchesne E, Lewis NE, Pramparo T.

Mol Autism. 2017 Jun 21;8:29. doi: 10.1186/s13229-017-0147-7. eCollection 2017.


Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.


Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.

McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM; Brain Somatic Mosaicism Network.

Science. 2017 Apr 28;356(6336). pii: eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Review.


Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder.

Lombardo MV, Moon HM, Su J, Palmer TD, Courchesne E, Pramparo T.

Mol Psychiatry. 2018 Apr;23(4):1001-1013. doi: 10.1038/mp.2017.15. Epub 2017 Mar 21.


Toddlers later diagnosed with autism exhibit multiple structural abnormalities in temporal corpus callosum fibers.

Fingher N, Dinstein I, Ben-Shachar M, Haar S, Dale AM, Eyler L, Pierce K, Courchesne E.

Cortex. 2017 Dec;97:291-305. doi: 10.1016/j.cortex.2016.12.024. Epub 2017 Jan 23.


Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.


To Screen or Not to Screen Universally for Autism is not the Question: Why the Task Force Got It Wrong.

Pierce K, Courchesne E, Bacon E.

J Pediatr. 2016 Sep;176:182-94. doi: 10.1016/j.jpeds.2016.06.004. Epub 2016 Jul 12. No abstract available.


Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.

Marchetto MC, Belinson H, Tian Y, Freitas BC, Fu C, Vadodaria K, Beltrao-Braga P, Trujillo CA, Mendes APD, Padmanabhan K, Nunez Y, Ou J, Ghosh H, Wright R, Brennand K, Pierce K, Eichenfield L, Pramparo T, Eyler L, Barnes CC, Courchesne E, Geschwind DH, Gage FH, Wynshaw-Boris A, Muotri AR.

Mol Psychiatry. 2017 Jun;22(6):820-835. doi: 10.1038/mp.2016.95. Epub 2016 Jul 5.


Frequency and Complexity of De Novo Structural Mutation in Autism.

Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J.

Am J Hum Genet. 2016 Apr 7;98(4):667-79. doi: 10.1016/j.ajhg.2016.02.018. Epub 2016 Mar 24.


Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers.

Pramparo T, Lombardo MV, Campbell K, Barnes CC, Marinero S, Solso S, Young J, Mayo M, Dale A, Ahrens-Barbeau C, Murray SS, Lopez L, Lewis N, Pierce K, Courchesne E.

Mol Syst Biol. 2015 Dec 14;11(12):841. doi: 10.15252/msb.20156108.


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

Solso S, Xu R, Proudfoot J, Hagler DJ Jr, Campbell K, Venkatraman V, Carter Barnes C, Ahrens-Barbeau C, Pierce K, Dale A, Eyler L, Courchesne E.

Biol Psychiatry. 2016 Apr 15;79(8):676-84. doi: 10.1016/j.biopsych.2015.06.029. Epub 2015 Jul 4.


Different functional neural substrates for good and poor language outcome in autism.

Lombardo MV, Pierce K, Eyler LT, Carter Barnes C, Ahrens-Barbeau C, Solso S, Campbell K, Courchesne E.

Neuron. 2015 Apr 22;86(2):567-77. doi: 10.1016/j.neuron.2015.03.023. Epub 2015 Apr 9.


Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.

Pramparo T, Pierce K, Lombardo MV, Carter Barnes C, Marinero S, Ahrens-Barbeau C, Murray SS, Lopez L, Xu R, Courchesne E.

JAMA Psychiatry. 2015 Apr;72(4):386-94. doi: 10.1001/jamapsychiatry.2014.3008.


Measuring outcome in an early intervention program for toddlers with autism spectrum disorder: use of a curriculum-based assessment.

Bacon EC, Dufek S, Schreibman L, Stahmer AC, Pierce K, Courchesne E.

Autism Res Treat. 2014;2014:964704. doi: 10.1155/2014/964704. Epub 2014 Mar 10.


Patches of disorganization in the neocortex of children with autism.

Stoner R, Chow ML, Boyle MP, Sunkin SM, Mouton PR, Roy S, Wynshaw-Boris A, Colamarino SA, Lein ES, Courchesne E.

N Engl J Med. 2014 Mar 27;370(13):1209-1219. doi: 10.1056/NEJMoa1307491.


Intrinsic connectivity network mapping in young children during natural sleep.

Manning JH, Courchesne E, Fox PT.

Neuroimage. 2013 Dec;83:288-93. doi: 10.1016/j.neuroimage.2013.05.020. Epub 2013 May 29.


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.

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.


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

Morgan JT, Chana G, Abramson I, Semendeferi K, Courchesne E, Everall IP.

Brain Res. 2012 May 25;1456:72-81. doi: 10.1016/j.brainres.2012.03.036. Epub 2012 Mar 23.


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.

PLoS Genet. 2012;8(3):e1002592. doi: 10.1371/journal.pgen.1002592. Epub 2012 Mar 22.


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.

Front Genet. 2012 Feb 24;3:11. doi: 10.3389/fgene.2012.00011. eCollection 2012.


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.

Brain. 2012 Mar;135(Pt 3):949-60. doi: 10.1093/brain/awr364. Epub 2012 Feb 20.


Neuron number and size in prefrontal cortex of children with autism.

Courchesne E, Mouton PR, Calhoun ME, Semendeferi K, Ahrens-Barbeau C, Hallet MJ, Barnes CC, Pierce K.

JAMA. 2011 Nov 9;306(18):2001-10. doi: 10.1001/jama.2011.1638.


Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples.

Chow ML, Li HR, Winn ME, April C, Barnes CC, Wynshaw-Boris A, Fan JB, Fu XD, Courchesne E, Schork NJ.

BMC Genomics. 2011 Sep 10;12:449. doi: 10.1186/1471-2164-12-449.


Disrupted neural synchronization in toddlers with autism.

Dinstein I, Pierce K, Eyler L, Solso S, Malach R, Behrmann M, Courchesne E.

Neuron. 2011 Jun 23;70(6):1218-25. doi: 10.1016/j.neuron.2011.04.018.


Family-based association testing of glutamate transporter genes in autism.

Jacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJ.

Psychiatr Genet. 2011 Aug;21(4):212-3. doi: 10.1097/YPG.0b013e328341a323. No abstract available.


Brain growth across the life span in autism: age-specific changes in anatomical pathology.

Courchesne E, Campbell K, Solso S.

Brain Res. 2011 Mar 22;1380:138-45. doi: 10.1016/j.brainres.2010.09.101. Epub 2010 Oct 1.


Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism.

Morgan JT, Chana G, Pardo CA, Achim C, Semendeferi K, Buckwalter J, Courchesne E, Everall IP.

Biol Psychiatry. 2010 Aug 15;68(4):368-76. doi: 10.1016/j.biopsych.2010.05.024.


Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism.

Schumann CM, Bloss CS, Barnes CC, Wideman GM, Carper RA, Akshoomoff N, Pierce K, Hagler D, Schork N, Lord C, Courchesne E.

J Neurosci. 2010 Mar 24;30(12):4419-27. doi: 10.1523/JNEUROSCI.5714-09.2010.


Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.

Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH Jr, Macdonald RL, Sutcliffe JS.

Mol Psychiatry. 2011 Jan;16(1):86-96. doi: 10.1038/mp.2009.118. Epub 2009 Nov 24.


Amygdala enlargement in toddlers with autism related to severity of social and communication impairments.

Schumann CM, Barnes CC, Lord C, Courchesne E.

Biol Psychiatry. 2009 Nov 15;66(10):942-9. doi: 10.1016/j.biopsych.2009.07.007. Epub 2009 Sep 2.


Family-Based Association Testing of OCD-associated SNPs of SLC1A1 in an autism sample.

Brune CW, Kim SJ, Hanna GL, Courchesne E, Lord C, Leventhal BL, Cook EH.

Autism Res. 2008 Apr;1(2):108-13. doi: 10.1002/aur.11.


Functional abnormalities of the default network during self- and other-reflection in autism.

Kennedy DP, Courchesne E.

Soc Cogn Affect Neurosci. 2008 Jun;3(2):177-90. doi: 10.1093/scan/nsn011. Epub 2008 Apr 28.


Deviant functional magnetic resonance imaging patterns of brain activity to speech in 2-3-year-old children with autism spectrum disorder.

Redcay E, Courchesne E.

Biol Psychiatry. 2008 Oct 1;64(7):589-98. doi: 10.1016/j.biopsych.2008.05.020. Epub 2008 Jul 30.


Atypical functional lateralization of language in autism spectrum disorders.

Kleinhans NM, Müller RA, Cohen DN, Courchesne E.

Brain Res. 2008 Jul 24;1221:115-25. doi: 10.1016/j.brainres.2008.04.080. Epub 2008 May 14.


Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.

Kim SJ, Brune CW, Kistner EO, Christian SL, Courchesne EH, Cox NJ, Cook EH.

Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1116-25. doi: 10.1002/ajmg.b.30733.


Functional neuroimaging of speech perception during a pivotal period in language acquisition.

Redcay E, Haist F, Courchesne E.

Dev Sci. 2008 Mar;11(2):237-52. doi: 10.1111/j.1467-7687.2008.00674.x.


The intrinsic functional organization of the brain is altered in autism.

Kennedy DP, Courchesne E.

Neuroimage. 2008 Feb 15;39(4):1877-85. Epub 2007 Nov 12.


Mapping early brain development in autism.

Courchesne E, Pierce K, Schumann CM, Redcay E, Buckwalter JA, Kennedy DP, Morgan J.

Neuron. 2007 Oct 25;56(2):399-413. Review.


fMRI during natural sleep as a method to study brain function during early childhood.

Redcay E, Kennedy DP, Courchesne E.

Neuroimage. 2007 Dec;38(4):696-707. Epub 2007 Aug 17.


N-acetyl aspartate in autism spectrum disorders: regional effects and relationship to fMRI activation.

Kleinhans NM, Schweinsburg BC, Cohen DN, Müller RA, Courchesne E.

Brain Res. 2007 Aug 8;1162:85-97. Epub 2007 May 21.


MRI neuroanatomy in young girls with autism: a preliminary study.

Bloss CS, Courchesne E.

J Am Acad Child Adolesc Psychiatry. 2007 Apr;46(4):515-523. doi: 10.1097/chi.0b013e318030e28b.


No reduction of spindle neuron number in frontoinsular cortex in autism.

Kennedy DP, Semendeferi K, Courchesne E.

Brain Cogn. 2007 Jul;64(2):124-9. Epub 2007 Mar 13.


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