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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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Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorderThis study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.
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Perceived gender ratings for high and low scorers on the autism-spectrum quotient consistent with the extreme male brain account of autismThis study tested the 'Extreme Male Brain' theory & androgyny accounts of Autism spectrum disorder.
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Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent OffspringThis study adds to existing evidence that the rate of pre-existing psychiatric disorders in mothers of children with autism spectrum disorder is higher than...
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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...
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Evidence of a reduction over time in the behavioral severity of autistic disorder diagnosesThis study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria
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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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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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Brief Report: Further Evidence for a Link Between Inner Speech Limitations and Executive Function in High-Functioning Children with AutismThis study investigated the involvement of inner speech limitations in the executive dysfunction associated with autism spectrum disorders (ASDs).