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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Prevalence and outcomes of young people with concurrent autism spectrum disorder and first episode of psychosisIndividuals with concurrent first episode of psychosis and ASD can present with distinct clinical characteristics that require specialised assessment and treatment
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Short report: Relationship between restricted and repetitive behaviours in children with autism spectrum disorder and their parentsRestricted and repetitive behaviours constitute a core symptom domain of autism spectrum disorder
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Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual DisabilityMothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
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Is the broad autism phenotype in mothers of children with autism spectrum disorder exacerbated by the challenges of caring for their children?This qualitative study of parental interviews provided a preliminary examination of whether behaviours consistent with the BAP may have been exacerbated by...
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MACROD2 gene associated with autistic-like traits in a general population sampleThe MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population
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Commentary: Are we expecting too much from the extreme male brain theory of autism? A reflection on Kung et al. (2016)This commentary highlights inconsistent findings that undermine the extreme male brain theory autism but data may not present an adequate test of the hypothesis
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Reduced goal-directed action control in autism spectrum disorderInvestigate whether impairments in the ability to execute flexible goal-directed actions may be an underlying feature in ASD contributing to these symptoms
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The association between autism and schizophrenia spectrum disorders: A review of eight alternate models of co-occurrenceUnderstanding how and why these disorders co-occur has important implications for diagnosis, treatment, and prognosis, as well as for developing fundamental...