ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2014
Aberrant white matter microstructure in children with 16p11.2 deletions.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 116 citations in OpenAlex.
- Artificial Intelligence Networks Combining Histopathology and Machine Learning Can Extract Axon Pathology in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2025Article
- TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers.Stem cell reports · 2025Article
- Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.Molecular psychiatry · 2025Article
- Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter.International journal of molecular sciences · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Discovering the gene-brain-behavior link in autism via generative machine learning.Science advances · 2024Article
- Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.Translational psychiatry · 2024Article
- Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.Frontiers in pharmacology · 2024Review
- Microstructural Properties of Human Brain Revealed by Fractional Anisotropy Can Predict the After-Effect of Intermittent Theta Burst Stimulation.Cerebral cortex communications · 2022Article
- Sex Chromosome Dosage Effects on White Matter Structure in the Human Brain.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- To eat, or not to eat, that is the question: Neural stem cells escape phagocytosis in autism with macrocephaly.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Article
- 16p11.2 Copy Number Variations and Neurodevelopmental Disorders.Trends in neurosciences · 2020Review
- Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice.Nature neuroscience · 2020Article
- The evolution of white matter microstructural changes after mild traumatic brain injury: A longitudinal DTI and NODDI study.Science advances · 2020Article
- Magnitude and timing of major white matter tract maturation from infancy through adolescence with NODDI.NeuroImage · 2020Article
- Altered Cerebellar White Matter in Sensory Processing Dysfunction Is Associated With Impaired Multisensory Integration and Attention.Frontiers in psychology · 2020Article
- Article
- Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variants (CNVs) of the chromosomal locus 16p11.2, consisting of either deletions or duplications, have been implicated in autism, schizophrenia, epilepsy, and other neuropsychiatric disorders. Since abnormal white matter microstructure can be seen in these more broadly defined clinical disorders, we used diffusion magnetic resonance imaging and tract-based spatial statistics to investigate white matter microstructural integrity in human children with 16p11.2 deletions. We show that deletion carriers, compared with typically developing matched controls, have increased axial diffusivity (AD) in many major central white matter tracts, including the anterior corpus callosum as well as bilateral internal and external capsules. Higher AD correlated with lower nonverbal IQ in the deletion carriers, but not controls. Increases in fractional anisotropy and mean diffusivity were also found in some of the same tracts with elevated AD. Closer examination with neurite orientation dispersion and density imaging revealed that fiber orientation dispersion was decreased in some central white matter tracts. Notably, these alterations of white matter are unlike microstructural differences reported for any other neurodevelopmental disorders, including autism spectrum disorders that have phenotypic overlap with the deletion carriers. These findings suggest that deletion of the 16p11.2 locus is associated with a unique widespread pattern of aberrant white matter microstructure that may underlie the impaired cognition characteristic of this CNV.
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