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Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
Fox transcription factors: from development to disease
Forkhead box (Fox) transcription factors are evolutionarily conserved in organisms ranging
from yeast to humans. They regulate diverse biological processes both during development …
from yeast to humans. They regulate diverse biological processes both during development …
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 …
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism, 2017 - Springer
Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …
applied to aid in the understanding of the biology of traits. The success of this approach is …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …
novo mutations but few recurrently disrupted genes. We therefore developed a modified …
Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits
Chronic sleep disturbances, associated with cardiometabolic diseases, psychiatric disorders
and all-cause mortality,, affect 25–30% of adults worldwide. Although environmental factors …
and all-cause mortality,, affect 25–30% of adults worldwide. Although environmental factors …
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
Genomics, intellectual disability, and autism
HC Mefford, ML Batshaw… - New England Journal of …, 2012 - Mass Medical Soc
Genomics, Intellectual Disability, and Autism | New England Journal of Medicine Skip to main
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content The New England Journal of Medicine homepage Advanced Search SEARCH …