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Candidate biomarkers in psychiatric disorders: state of the field
The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …
aid in objectively diagnosing patients and providing individualized treatment …
Neurodevelopmental disorders: from genetics to functional pathways
I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …
and function and are characterized by wide genetic and clinical variability. In this review, we …
Autism genes converge on asynchronous development of shared neuron classes
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the develo** brain …
differentiation and reflect changes in the gene regulatory landscape. In the develo** brain …
[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
Macroautophagy in CNS health and disease
Macroautophagy is an evolutionarily conserved process that delivers diverse cellular
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
Humans vary substantially in their willingness to take risks. In a combined sample of over 1
million individuals, we conducted genome-wide association studies (GWAS) of general risk …
million individuals, we conducted genome-wide association studies (GWAS) of general risk …
[HTML][HTML] Establishing cerebral organoids as models of human-specific brain evolution
Direct comparisons of human and non-human primate brains can reveal molecular
pathways underlying remarkable specializations of the human brain. However, chimpanzee …
pathways underlying remarkable specializations of the human brain. However, chimpanzee …
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …