Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. - Test2 - elhamkhani - TriplyDB

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

http://www.wikidata.org/entity/Q30572502

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Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder Genetics and genomics of psychiatric disease The Impact of Neuroimmune Alterations in Autism Spectrum Disorder Big data and clinicians: a review on the state of the science Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder Copy 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-morbidities Developmental 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 delay Overview of mouse models of autism spectrum disorders Insights 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 autism Copy number variants, aneuploidies, and human disease The 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 patients Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction.Autism spectrum disorders: from genes to neurobiology The human clinical phenotypes of altered CHRNA7 copy number Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Gene hunting in autism spectrum disorder: on the path to precision medicine α5GABAA receptor deficiency causes autism-like behaviors Topoisomerases facilitate transcription of long genes linked to autism Rare 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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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

http://www.wikidata.org/entity/Q30572502

description

2012 nî lūn-bûn

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Using large clinical data sets ...... er variants in autism cohorts.

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Using large clinical data sets ...... er variants in autism cohorts.

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Molecular Psychiatry

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Using large clinical data sets ...... er variants in autism cohorts.

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A J Willsey

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C L Martin

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D H Geschwind

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Advances in autism genetics: on the threshold of a new neurobiology

Rare chromosomal deletions and duplications increase risk of schizophrenia

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

Functional impact of global rare copy number variation in autism spectrum disorders

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Strong association of de novo copy number mutations with autism

Association between microdeletion and microduplication at 16p11.2 and autism

Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

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10.1038/MP.2012.138

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