Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
about
Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autismNovel bioinformatic developments for exome sequencingA knowledge network for a dynamic taxonomy of psychiatric diseaseModified screening and ranking algorithm for copy number variation detection.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsLoss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficitsSynaptic, transcriptional and chromatin genes disrupted in autismTrans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations.Cortical Structure Alterations and Social Behavior Impairment in p50-Deficient MiceTranslational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataExome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.A de novo convergence of autism genetics and molecular neuroscience.Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesCopy number variation in Han Chinese individuals with autism spectrum disorder.The clinical significance of small copy number variants in neurodevelopmental disordersGenetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autismAn evaluation of copy number variation detection tools from whole-exome sequencing data.Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Excess of rare, inherited truncating mutations in autism.Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.The genetics of microdeletion and microduplication syndromes: an update.A New Method for Detecting Associations with Rare Copy-Number Variants.Genetics and genomics of autism spectrum disorder: embracing complexity.An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity DisorderIntegrated small copy number variations and epigenome maps of disorders of sex development.Assessing the reproducibility of exome copy number variations predictions.Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brainPatterns of genic intolerance of rare copy number variation in 59,898 human exomesExome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.Addressing the problem of ADHD medication as neuroenhancements.Recent advances in the genetics of autism spectrum disorder.
P2860
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P2860
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Identification of small exonic ...... n to autism spectrum disorder.
@ast
Identification of small exonic ...... n to autism spectrum disorder.
@en
type
label
Identification of small exonic ...... n to autism spectrum disorder.
@ast
Identification of small exonic ...... n to autism spectrum disorder.
@en
prefLabel
Identification of small exonic ...... n to autism spectrum disorder.
@ast
Identification of small exonic ...... n to autism spectrum disorder.
@en
P2093
P2860
P50
P1476
Identification of small exonic ...... n to autism spectrum disorder.
@en
P2093
Arthur P Goldberg
Christine Stevens
Christopher S Poultney
Elodie Drapeau
Hala Harony-Nicolas
Karola Rehnström
Menachem Fromer
Simon Durand
P2860
P304
P356
10.1016/J.AJHG.2013.09.001
P407
P577
2013-10-01T00:00:00Z