ArticleNeuroImage. Clinical2017
Williams syndrome-specific neuroanatomical profile and its associations with behavioral features.
Article in NeuroImage. Clinical, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Brain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.Biomolecules · 2025Article
- Using Predictive Performance from an Elastic Net Regression to Classify Developmental Language Disorder (DLD).Annals of otolaryngology and rhinology · 2025Article
- Inhibitory Systems in Brain Evolution: Pathways of Vulnerability in Neurodevelopmental Disorders.Brain, behavior and evolution · 2025Review
- Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype.Journal of autism and developmental disorders · 2023Article
- No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank.Translational psychiatry · 2023Article
- Categorical perception and language evolution: a comparative and neurological perspective.Frontiers in psychology · 2023Article
- Multivariate genome-wide association study on tissue-sensitive diffusion metrics highlights pathways that shape the human brain.Nature communications · 2022Article
- Article
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.Human brain mapping · 2022Review
- The genetic architecture of human cortical folding.Science advances · 2021Article
- 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.Translational psychiatry · 2021Article
- Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.Molecular autism · 2020Review
- Decreased density of cholinergic interneurons in striatal territories in Williams syndrome.Brain structure & function · 2020Article
- Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Molecular psychiatry · 2020Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- Decreased Neuron Density and Increased Glia Density in the Ventromedial Prefrontal Cortex (Brodmann Area 25) in Williams Syndrome.Brain sciences · 2018Article
- Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes.Translational psychiatry · 2018Article
- Beyond heritability: improving discoverability in imaging genetics.Human molecular genetics · 2018Review
- Increased glia density in the caudate nucleus in williams syndrome: Implications for frontostriatal dysfunction in autism.Developmental neurobiology · 2018Article
- A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome.Frontiers in neurology · 2018Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific neuroanatomical profile from structural magnetic resonance imaging (MRI) measurements and tested its association with behavioral features of WS. Using a WS adult cohort (22 WS, 16 healthy controls), we modeled a sparse representation of a WS-specific neuroanatomical profile. The predictive performances are robust within the training cohort (10-fold cross-validation, AUC = 1.0) and accurately identify all WS individuals in an independent child WS cohort (seven WS, 59 children with diverse developmental status, AUC = 1.0). The WS-specific neuroanatomical profile includes measurements in the orbitofrontal cortex, superior parietal cortex, Sylvian fissures, and basal ganglia, and variability within these areas related to the underlying size of hemizygous deletion in patients with partial deletions. The profile intensity mediated the overall cognitive impairment as well as personality features related to hypersociability. Our results imply that the unique behaviors in WS were mediated through the constellation of abnormalities in cortical-subcortical circuitry consistent in child WS and adult WS. The robustness of the derived WS-specific neuroanatomical profile also demonstrates the potential utility of our approach in both clinical and research applications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.