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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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In: Developmental neurorehabilitation, vol 25, iss 2 (2022)
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Psychic Life-Biological Molecule Bidirectional Relationship: Pathways, Mechanisms, and Consequences for Medical and Psychological Sciences—A Narrative Review
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In: International Journal of Molecular Sciences; Volume 23; Issue 7; Pages: 3932 (2022)
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Artificial Intelligence Enabled Personalised Assistive Tools to Enhance Education of Children with Neurodevelopmental Disorders—A Review
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In: International Journal of Environmental Research and Public Health; Volume 19; Issue 3; Pages: 1192 (2022)
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Neural dynamics of semantic categorization in semantic variant of primary progressive aphasia.
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| 8 |
What Do We Mean by Behavioral Disinhibition in Frontotemporal Dementia?
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| 9 |
Development of thalamus mediates paternal age effect on offspring reading: A preliminary investigation.
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In: Human brain mapping, vol 42, iss 14 (2021)
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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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| 11 |
Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.
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In: Molecular psychiatry, vol 26, iss 12 (2021)
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| 12 |
A Therapeutic Relational Agent for Reducing Problematic Substance Use (Woebot): Development and Usability Study.
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In: Journal of medical Internet research, vol 23, iss 3 (2021)
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| 13 |
A systematic review of cognitive behavior therapy and dialectical behavior therapy for adolescent eating disorders.
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In: Journal of eating disorders, vol 9, iss 1 (2021)
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| 14 |
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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| 16 |
Artificial Intelligence for Mental Health Care: Clinical Applications, Barriers, Facilitators, and Artificial Wisdom.
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In: Biological psychiatry. Cognitive neuroscience and neuroimaging, vol 6, iss 9 (2021)
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| 18 |
Characteristics and Impacts of Community Aphasia Group Facilitation - A Systematic Scoping Review ...
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| 19 |
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders
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Devanna, P; Chen, X S; Ho, J; Gajewski, D; Smith, S D; Gialluisi, A; Francks, C; Fisher, S E; Newbury, D F; Vernes, S C. - 2021
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Abstract:
Funding: This work was funded by a Marie Curie Career Integration Grant and by a Max Planck Research Group Grant both awarded to SCV. The work of the Newbury lab is funded by the Medical Research Council (G1000569/1 and MR/J003719/1). XSC, AG, CF and SEF were supported by the Max Planck Society. The UK Medical Research Council and the Wellcome Trust (Grant ref: 102215/2/13/2) and the University of Bristol provided core support for ALSPAC. The work of the Wellcome Trust Centre in Oxford is supported by the Wellcome Trust (090532/Z/09/Z). JH was supported by a scholarship from the Agency for Science, Technology, and Research, Singapore. The work of SDS is supported by the grant HD027802 from NIH. ; Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3'UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease. ; Publisher PDF ; Peer reviewed
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Keyword:
3' Untranslated Regions/genetics; Adult; Autistic disorder/genetics; Binding sites/genetics; Bipolar disorder/genetics; Child; Cohort studies; DAS; DNA; Female; Gene expression regulation/genetics; Genetic predisposition to Disease; Genetic variation/genetics; Genomics; High-throughput nucleotide sequencing/methods; Humans; intergenic/genetics; Language development disorders/genetics; Male; Mental disorders/genetics; microRNAs/genetics; Nervous system diseases/genetics; Neurodevelopmental disorders/genetics; QH301; QH301 Biology; QH426; QH426 Genetics; RC0321; RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry; Schizophrenia/genetics; Sequence analysis/methods
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URL: https://doi.org/10.1038/mp.2017.30
http://hdl.handle.net/10023/21699
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Dialectical Behavior Therapy for Dual Diagnosis: Treating Adolescent Substance Use Disorder and Co-Occurring Mood Disorders
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In: Senior Honors Projects (2021)
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