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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 5...8 Hits 1 – 20 of 142 1 Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome Douard, Elise; Zeribi, Abderrahim; Schramm, Catherine... In: ISSN: 0002-953X ; EISSN: 1535-7228 ; American Journal of Psychiatry ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371 ; American Journal of Psychiatry, American Psychiatric Publishing, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩ (2021) BASE Show details 2 Parental Perceptions and Decisions Regarding Maintaining Bilingualism in Autism. ... Howard, Katie; Gibson, Jenny; Katsos, Napoleon. - : Apollo - University of Cambridge Repository, 2021 BASE Show details 3 Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders 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 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 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 URL: https://doi.org/10.1038/mp.2017.30 http://hdl.handle.net/10023/21699 BASE Hide details 4 Bilingüismo y lenguaje en niños con trastorno del espectro autista: una revisión sistemática ; Bilingualism and language in children with autistic spectrum disorder: a systematic review Garrido del Águila, Dunia; Aguado López, Blanca; Carballo García, María Gloria. - : Elsevier, 2021 BASE Show details 5 Parental Perceptions and Decisions Regarding Maintaining Bilingualism in Autism. Howard, Katie; Gibson, Jenny; Katsos, Napoleon. - : Springer Science and Business Media LLC, 2021. : J Autism Dev Disord, 2021 BASE Show details 6 Scurvy as an alarm bell of autistic spectrum disorder in the first world: A case report of a 3-year-old girl Scorpo M.L.; Corsello G.; Maggio M.C.. - : International Scientific Information, Inc., 2021 BASE Show details 7 Postural balance in children with Autism Spectrum Disorders Erika Suenya Gomes Cordeiro; Luana Celly Silva Aprígio; Cíntia Alves Salgado Azoni... In: Revista CEFAC, Vol 23, Iss 5 (2021) (2021) BASE Show details 8 A Distinction Between Linguistic and Social Pragmatics Helps the Precise Characterization of Pragmatic Challenges in Children With Autism Spectrum Disorders and Developmental Language Disorder Andrés-Roqueta, Clara; Katsos, Napoleon. - : American Speech-Language-Hearing Association, 2020 BASE Show details 9 Speech-language-hearing therapy and clinical listening in a mental health team: perception of parents of children with autism spectrum disorder Caroline Lopes Barbosa; Isabela Barros Gonçalves Alencar; Vera Lúcia Ferreira Mendes... In: Revista CEFAC, Vol 22, Iss 1 (2020) (2020) BASE Show details 10 Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family Lahbib, Saida; Trabelsi, Mediha; Dallali, Hamza... In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019) BASE Show details 11 Individual and organizational factors that affect implementation of evidence-based practices for children with autism in public schools: a cross-sectional observational study. Locke, Jill; Lawson, Gwendolyn M; Beidas, Rinad S... In: Implementation science : IS, vol 14, iss 1 (2019) BASE Show details 12 Relations Between Bilingualism and Autistic-Like Traits in a General Population Sample of Primary School Children. ... Kašćelan, Draško; Katsos, Napoleon; Gibson, Jenny. - : Apollo - University of Cambridge Repository, 2019 BASE Show details 13 Using interpretative phenomenological analysis in autism research. ... Howard, Katie; Katsos, Napoleon; Gibson, Jenny. - : Apollo - University of Cambridge Repository, 2019 BASE Show details 14 Using interpretative phenomenological analysis in autism research. Howard, Katie; Katsos, Napoleon; Gibson, Jenny. - : SAGE Publications, 2019. : Autism, 2019 BASE Show details 15 Relations Between Bilingualism and Autistic-Like Traits in a General Population Sample of Primary School Children. Kašćelan, Draško; Katsos, Napoleon; Gibson, Jenny. - : Springer Science and Business Media LLC, 2019. : J Autism Dev Disord, 2019 BASE Show details 16 Caracterização da linguagem de crianças e adolescentes com transtorno do espectro autista ; Language characterization of children and adolescents with autism spectrum disorder Bó, Fernanda Rocha. - : Biblioteca Digital de Teses e Dissertações da USP, 2019. : Universidade de São Paulo, 2019. : Faculdade de Medicina de Ribeirão Preto, 2019 BASE Show details 17 Escala de rastreio para transtorno do espectro autista: um estudo de validade para adolescentes e adultos ; Screening scale for autism spectrum disorder: a validity study for adoles-cents and adults Maia, Kelvya Silveira. - : Biblioteca Digital de Teses e Dissertações da USP, 2019. : Universidade de São Paulo, 2019. : Instituto de Psicologia, 2019 BASE Show details 18 Características psicopatológicas en adultos con Trastorno del Espectro Autista ; Psychopathological characteristics In adults with Autism Spectrum Disorder Lugo Marín, Jorge. - 2019 BASE Show details 19 Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity'' Tordjman, S.; Cohen, D.; Anderson, G. M.... In: ISSN: 0149-7634 ; Neuroscience and Biobehavioral Reviews ; https://hal-amu.archives-ouvertes.fr/hal-01812461 ; Neuroscience and Biobehavioral Reviews, Elsevier, 2018, 89, pp.132-150. ⟨10.1016/j.neubiorev.2018.01.014⟩ (2018) BASE Show details 20 Comparing growth in linguistic comprehension and reading comprehension in school-aged children with autism versus typically developing children. Grimm, Ryan P; Solari, Emily J; McIntyre, Nancy S... In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018) BASE Show details Page: 1 2 3 4 5...8

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