Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
about
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderGenetics and genomics of psychiatric diseaseThe Impact of Neuroimmune Alterations in Autism Spectrum DisorderBig data and clinicians: a review on the state of the scienceGenetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical LandscapeGenome-wide prediction and functional characterization of the genetic basis of autism spectrum disorderCopy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbiditiesDevelopmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome.Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.Genomic imprinting does not reduce the dosage of UBE3A in neurons.The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Potential Value of Genomic Copy Number Variations in Schizophrenia.Bio-collections in autism research.The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism.Refining analyses of copy number variation identifies specific genes associated with developmental delayOverview of mouse models of autism spectrum disordersInsights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autismCopy number variants, aneuploidies, and human diseaseThe genetics of microdeletion and microduplication syndromes: an update.Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patientsVariation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction.Autism spectrum disorders: from genes to neurobiologyThe human clinical phenotypes of altered CHRNA7 copy numberSignificant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplicationsReverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Gene hunting in autism spectrum disorder: on the path to precision medicineα5GABAA receptor deficiency causes autism-like behaviorsTopoisomerases facilitate transcription of long genes linked to autismRare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.15q13.3 duplication in two patients with childhood-onset schizophrenia.Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Analysis of copy number variations at 15 schizophrenia-associated loci.
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P2860
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Using large clinical data sets ...... er variants in autism cohorts.
@ast
Using large clinical data sets ...... er variants in autism cohorts.
@en
type
label
Using large clinical data sets ...... er variants in autism cohorts.
@ast
Using large clinical data sets ...... er variants in autism cohorts.
@en
prefLabel
Using large clinical data sets ...... er variants in autism cohorts.
@ast
Using large clinical data sets ...... er variants in autism cohorts.
@en
P2093
P2860
P356
P1433
P1476
Using large clinical data sets ...... er variants in autism cohorts.
@en
P2093
A J Willsey
C L Martin
D H Geschwind
D H Ledbetter
D Moreno-De-Luca
S J Sanders
P2860
P2888
P304
P356
10.1038/MP.2012.138
P407
P577
2012-10-09T00:00:00Z