De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.
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De novo mutations in moderate or severe intellectual disabilityDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesExome sequencing reveals new causal mutations in children with epileptic encephalopathiesThe dysconnection hypothesis (2016)Genetics and genomics of psychiatric diseaseToward a Deeper Understanding of the Genetics of Bipolar DisorderThe developmental transcriptome of the human brain: implications for neurodevelopmental disordersSynaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia.The FMRP regulon: from targets to disease convergenceNew insights into the generation and role of de novo mutations in health and diseaseNovel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in SchizophreniaGenome-wide association analysis identifies 13 new risk loci for schizophreniaImpairment of translation in neurons as a putative causative factor for autismBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesA framework for the interpretation of de novo mutation in human diseaseDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeInvestigation of SHANK3 in schizophrenia.Microendophenotypes of psychiatric disorders: phenotypes of psychiatric disorders at the level of molecular dynamics, synapses, neurons, and neural circuitsFamily-based association tests for sequence data, and comparisons with population-based association tests.Deletion of Rapgef6, a candidate schizophrenia susceptibility gene, disrupts amygdala function in mice.Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autismIntegrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.Genome-wide analysis of differential RNA editing in epilepsy.Neurogenetic analysis of childhood disintegrative disorder.cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics.Topoisomerase 3β is the major topoisomerase for mRNAs and linked to neurodevelopment and mental dysfunction.Genetic Markers of Human Evolution Are Enriched in Schizophrenia.Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disabilityRare damaging variants in DNA repair and cell cycle pathways are associated with hippocampal and cognitive dysfunction: a combined genetic imaging study in first-episode treatment-naive patients with schizophrenia.Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.A gradient-boosting approach for filtering de novo mutations in parent-offspring triosPrioritization of neurodevelopmental disease genes by discovery of new mutations.Large-scale genomics unveils the genetic architecture of psychiatric disordersA polygenic burden of rare disruptive mutations in schizophrenia.
P2860
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P2860
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.
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
De novo gene mutations highlig ...... l complexity in schizophrenia.
@ast
De novo gene mutations highlig ...... l complexity in schizophrenia.
@en
type
label
De novo gene mutations highlig ...... l complexity in schizophrenia.
@ast
De novo gene mutations highlig ...... l complexity in schizophrenia.
@en
prefLabel
De novo gene mutations highlig ...... l complexity in schizophrenia.
@ast
De novo gene mutations highlig ...... l complexity in schizophrenia.
@en
P2093
P2860
P50
P356
P1433
P1476
De novo gene mutations highlig ...... al complexity in schizophrenia
@en
P2093
Braden Boone
Joseph A Gogos
Maria Karayiorgou
Scarlet Woodrick
P2860
P2888
P304
P356
10.1038/NG.2446
P407
P577
2012-10-03T00:00:00Z