Somatic mutation, genomic variation, and neurological disease
about
Single cell genomics: advances and future perspectivesNovel bioinformatic developments for exome sequencingDefinition and diagnostic criteria of sleep-related hypermotor epilepsyCerebral cortex expansion and folding: what have we learned?Mechanisms underlying structural variant formation in genomic disordersA Dishful of a Troubled Mind: Induced Pluripotent Stem Cells in Psychiatric ResearchCurrent Therapeutic Options in Sturge-Weber SyndromeGenes, circuits, and precision therapies for autism and related neurodevelopmental disordersGenetic changes shaping the human brainSomatic mosaicism in the human genomeCell competition: how to eliminate your neighboursThe neurogenetics of alternative splicingGetting into the brain: liposome-based strategies for effective drug delivery across the blood-brain barrierNew insights into the generation and role of de novo mutations in health and diseaseDynamic self-guiding analysis of Alzheimer's disease.Elevated germline mutation rate in teenage fathersVariations in brain DNAMosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorderThe landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selectionPatterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patientsAdditional mechanisms conferring genetic susceptibility to Alzheimer's diseaseSomatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsPostzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individualsExome-wide somatic microsatellite variation is altered in cells with DNA repair deficienciesRetrotransposition in tumors and brainsIndividualized medicine from prewomb to tombThe ageing genome, clonal mosaicism and chronic disease.Schizophrenia.Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning.Single neuron transcriptome analysis can reveal more than cell type classification: Does it matter if every neuron is unique?In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes.Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformationsReference-free SNP detection: dealing with the data deluge.SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data.Copy number variation is a fundamental aspect of the placental genome.A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.Variations in brain defects result from cellular mosaicism in the activation of heat shock signalling.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.
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P2860
Somatic mutation, genomic variation, and neurological disease
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին 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
Somatic mutation, genomic variation, and neurological disease
@ast
Somatic mutation, genomic variation, and neurological disease
@en
Somatic mutation, genomic variation, and neurological disease
@nl
type
label
Somatic mutation, genomic variation, and neurological disease
@ast
Somatic mutation, genomic variation, and neurological disease
@en
Somatic mutation, genomic variation, and neurological disease
@nl
prefLabel
Somatic mutation, genomic variation, and neurological disease
@ast
Somatic mutation, genomic variation, and neurological disease
@en
Somatic mutation, genomic variation, and neurological disease
@nl
P2093
P2860
P3181
P356
P1433
P1476
Somatic mutation, genomic variation, and neurological disease
@en
P2093
Annapurna Poduri
Christopher A Walsh
Gilad D Evrony
P2860
P304
P3181
P356
10.1126/SCIENCE.1237758
P407
P577
2013-07-05T00:00:00Z