The role of de novo mutations in the genetics of autism spectrum disorders.
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Loss of δ-catenin function in severe autismCharacterizing autism spectrum disorders by key biochemical pathways.Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromesNeonatal inflammatory pain and systemic inflammatory responses as possible environmental factors in the development of autism spectrum disorder of juvenile rats.A computational perspective on autism.Autism phenotypes in ZnT3 null mice: Involvement of zinc dyshomeostasis, MMP-9 activation and BDNF upregulation.Advancing the understanding of autism disease mechanisms through geneticsThe role of sex-differential biology in risk for autism spectrum disorderA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.The contribution of de novo coding mutations to autism spectrum disorderLow load for disruptive mutations in autism genes and their biased transmissionGenome-wide prediction and functional characterization of the genetic basis of autism spectrum disorderAn Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options.Microendophenotypes of psychiatric disorders: phenotypes of psychiatric disorders at the level of molecular dynamics, synapses, neurons, and neural circuitsGenome-wide analysis of differential RNA editing in epilepsy.Neurogenetic analysis of childhood disintegrative disorder.mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Pathophysiology of autism spectrum disorders: revisiting gastrointestinal involvement and immune imbalanceThe co-occurrence of autistic and ADHD dimensions in adults: an etiological study in 17,770 twins.Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.Recurrent de novo mutations implicate novel genes underlying simplex autism riskAbnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients.Maternal thyroid autoantibody and elevated risk of autism in a national birth cohort.Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.Open questions: what has genetics told us about autism spectrum disorders?Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.A Bayesian framework for de novo mutation calling in parents-offspring trios.Genomics in neurological disorders.Autism spectrum disorders: emerging mechanisms and mechanism-based treatment.Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8LExcess of rare, inherited truncating mutations in autism.Diagnosis and management of autism spectrum disorder in the era of genomics: rare disorders can pave the way for targeted treatmentsEpigenomic-basis of Preemptive Medicine for Neurodevelopmental DisordersLong genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases.The Contribution of Mosaic Variants to Autism Spectrum Disorder.COMPULS: design of a multicenter phenotypic, cognitive, genetic, and magnetic resonance imaging study in children with compulsive syndromes.Platelet studies in autism spectrum disorder patients and first-degree relativesQuantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families.
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The role of de novo mutations in the genetics of autism spectrum disorders.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
The role of de novo mutations in the genetics of autism spectrum disorders.
@en
type
label
The role of de novo mutations in the genetics of autism spectrum disorders.
@en
prefLabel
The role of de novo mutations in the genetics of autism spectrum disorders.
@en
P2860
P356
P1476
The role of de novo mutations in the genetics of autism spectrum disorders.
@en
P2093
Ivan Iossifov
P2860
P2888
P304
P356
10.1038/NRG3585
P577
2014-01-16T00:00:00Z
P5875
P6179
1024816768