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Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …
Neurodevelopmental disorders—the history and future of a diagnostic concept
This article describes the history of the diagnostic class of neurodevelopmental disorders
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
[PDF][PDF] ComBat-seq: batch effect adjustment for RNA-seq count data
The benefit of integrating batches of genomic data to increase statistical power is often
hindered by batch effects, or unwanted variation in data caused by differences in technical …
hindered by batch effects, or unwanted variation in data caused by differences in technical …
Brain Chimeroids reveal individual susceptibility to neurotoxic triggers
N Antón-Bolaños, I Faravelli, T Faits, S Andreadis… - Nature, 2024 - nature.com
Interindividual genetic variation affects the susceptibility to and progression of many
diseases,. However, efforts to study how individual human brains differ in normal …
diseases,. However, efforts to study how individual human brains differ in normal …
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear
how convergent biological processes in affected individuals may give rise to symptoms …
how convergent biological processes in affected individuals may give rise to symptoms …
Individual brain organoids reproducibly form cell diversity of the human cerebral cortex
Experimental models of the human brain are needed for basic understanding of its
development and disease. Human brain organoids hold unprecedented promise for this …
development and disease. Human brain organoids hold unprecedented promise for this …
Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …