Eric Courchesne
University of California, San Diego
AnatomyDevelopmental psychologyMagnetic resonance imagingPsychologyNeuroscienceCognitionCognitive psychologyAutismAutism spectrum disorderDevelopmental disorderFunctional magnetic resonance imagingCerebellumWhite matterBrain mappingAbnormalityElectroencephalographyGeneticsAudiologyMedicineBiology
284Publications
116H-index
45.1kCitations
Publications 227
Newest
#1Michael V. Lombardo (IIT: Istituto Italiano di Tecnologia)H-Index: 55
#2Lisa T. Eyler (UCSD: University of California, San Diego)H-Index: 47
Last. Eric Courchesne (UCSD: University of California, San Diego)H-Index: 116
view all 16 authors...
Cortical regionalization develops via genomic patterning along anterior-posterior (A-P) and dorsal-ventral (D-V) gradients. Here we find that normative A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT) present in typically developing and autistic toddlers with good early language outcome, is absent in autistic toddlers with poor early language outcome. Autistic toddlers with poor early language outcome are instead specifically characterized by secondary and independ...
1 CitationsSource
#1Karen Pierce (UCSD: University of California, San Diego)H-Index: 51
#2Vahid H. Gazestani (UCSD: University of California, San Diego)H-Index: 10
view all 15 authors...
Objectives To examine the impact of a new approach, Get SET Early, on the rates of early autism spectrum disorder (ASD) detection and factors that influence the screen-evaluate-treat chain. Study design Following Get SET Early training, 203 pediatricians administered 57,603 total screens using the Communication and Symbolic Behavior Scales Infant-Toddler Checklist at 12, 18, and 24-month well-baby examinations, and parents designated presence or absence of concern. For screen-positive toddlers, ...
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#1Danny Antaki (UCSD: University of California, San Diego)H-Index: 10
#2Adam X. Maihofer (UCSD: University of California, San Diego)H-Index: 20
Last. J. Sebat
view all 18 authors...
The genetic etiology of autism spectrum disorder (ASD) is multifactorial with contributions from rare variants, polygenic risk, and sex. How combinations of factors determine risk for ASD is unclear. In 11,313 ASD families (N = 37,375 subjects), we investigated the effects rare and polygenic risk individually and in combination. We show that genetic liability for ASD differs by sex, with females having a greater polygenic load, and males having a lower liability threshold as evident by a negativ...
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#1Michael V. Lombardo (IIT: Istituto Italiano di Tecnologia)H-Index: 55
#2Elena Maria Busuoli (IIT: Istituto Italiano di Tecnologia)
Last. Karen Pierce (UCSD: University of California, San Diego)H-Index: 51
view all 14 authors...
Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and pr...
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Last. Eric CourchesneH-Index: 116
view all 8 authors...
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#1Tianyun Wang (UW: University of Washington)H-Index: 12
#3Kendra Hoekzema (UW: University of Washington)H-Index: 17
Last. Evan E. Eichler (UW: University of Washington)H-Index: 173
view all 71 authors...
Erratum for: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 2020; 11(1): 4932. https://ahro.austin.org.au/austinjspui/handle/1/25074
Source
#1Tianyun Wang (UW: University of Washington)H-Index: 12
#3Kendra Hoekzema (UW: University of Washington)H-Index: 17
Last. Evan E. Eichler (UW: University of Washington)H-Index: 173
view all 71 authors...
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reporte...
8 CitationsSource
#1Michael V. Lombardo (IIT: Istituto Italiano di Tecnologia)H-Index: 55
#2Lisa T. Eyler (UCSD: University of California, San Diego)H-Index: 47
Last. Eric Courchesne (UCSD: University of California, San Diego)H-Index: 116
view all 16 authors...
Cortical regional identities develop through anterior-posterior (A-P) and dorsal-ventral (D-V) prenatal genomic patterning gradients. Here we find that A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT) is intact in typically developing and autistic toddlers with good language outcome, but is absent in autistic toddlers with poor early language outcome. Genes driving this effect are prominent in midgestational A-P and D-V gene expression gradients and prenatal cell t...
1 CitationsSource
#1Vahid H. Gazestani (University of California, Berkeley)H-Index: 1
#2Austin W. T. Chiang (University of California, Berkeley)H-Index: 7
Last. Nathan E. Lewis (University of California, Berkeley)H-Index: 43
view all 4 authors...
Numerous genes are associated with autism spectrum disorder (ASD); however, it remains unclear how most ASD risk genes influence neurodevelopment and result in similar traits. Recent genetic models of complex traits suggest non-tissue-specific genes converge on core disease genes; so we analyzed ASD genetics in this context. We found ASD risk genes partition cleanly into broadly-expressed and brain-specific genes. The two groups show sequential roles during neurodevelopment with broadly-expresse...
2 CitationsSource
#1Eric Courchesne (UCSD: University of California, San Diego)H-Index: 116
#2Vahid H. Gazestani (UCSD: University of California, San Diego)H-Index: 10
Last. Nathan E. Lewis (UCSD: University of California, San Diego)H-Index: 43
view all 3 authors...
Autism spectrum disorder (ASD) is a largely heritable, multistage prenatal disorder that impacts a child’s ability to perceive and react to social information. Most ASD risk genes are expressed prenatally in many ASD-relevant brain regions and fall into two categories: broadly expressed regulatory genes that are expressed in the brain and other organs, and brain-specific genes. In trimesters one to three (Epoch-1), one set of broadly expressed (the majority) and brain-specific risk genes disrupt...
18 CitationsSource