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Autism genetics: opportunities and challenges for clinical translation
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …
risk effects are highly variable, and they are frequently related to other conditions besides …
The role of the immune system in autism spectrum disorder
A Meltzer, J Van de Water - Neuropsychopharmacology, 2017 - nature.com
Autism is a neurodevelopmental disorder characterized by deficits in communication and
social skills as well as repetitive and stereotypical behaviors. While much effort has focused …
social skills as well as repetitive and stereotypical behaviors. While much effort has focused …
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies
Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …
Genomic patterns of de novo mutation in simplex autism
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …
[HTML][HTML] Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Genetic studies have identified dozens of autism spectrum disorder (ASD) susceptibility
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons
Autism spectrum disorder (ASD) is thought to emerge during early cortical development.
However, the exact developmental stages and associated molecular networks that prime …
However, the exact developmental stages and associated molecular networks that prime …
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
New technologies enabling genome-wide interrogation have led to a large and rapidly
growing number of autism spectrum disorder (ASD) candidate genes. Although …
growing number of autism spectrum disorder (ASD) candidate genes. Although …
[HTML][HTML] FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
JC Darnell, SJ Van Driesche, C Zhang, KYS Hung… - Cell, 2011 - cell.com
FMRP loss of function causes Fragile X syndrome (FXS) and autistic features. FMRP is a
polyribosome-associated neuronal RNA-binding protein, suggesting that it plays a key role …
polyribosome-associated neuronal RNA-binding protein, suggesting that it plays a key role …
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules
Intellectual disability (ID) disorders are genetically and phenotypically extremely
heterogeneous. Can this complexity be depicted in a comprehensive way as a means of …
heterogeneous. Can this complexity be depicted in a comprehensive way as a means of …