Mechanisms underlying structural variant formation in genomic disorders
about
New insights into the generation and role of de novo mutations in health and diseaseMajor influence of repetitive elements on disease-associated copy number variants (CNVs)Noncanonical views of homology-directed DNA repairGenetics and Genomics of Congenital Heart Disease.The Sequences of 1,504 Mutants in the Model Rice Variety Kitaake Facilitate Rapid Functional Genomic Studies.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Short template switch events explain mutation clusters in the human genome.Exosomes maintain cellular homeostasis by excreting harmful DNA from cells.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Ontogeny of Unstable Chromosomes Generated by Telomere Error in Budding Yeast.Chromatin Biology Impacts Adaptive Evolution of Filamentous Plant Pathogens.Mechanisms for Complex Chromosomal Insertions.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling.Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.Landscape and variation of novel retroduplications in 26 human populations.Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.Clinical genomics: from a truly personal genome viewpoint.Human adaptation and evolution by segmental duplication.Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.Break-induced replication links microsatellite expansion to complex genome rearrangements.Role of recombination and replication fork restart in repeat instability.A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.Remarkably Long-Tract Gene Conversion Induced by Fragile Site Instability in Saccharomyces cerevisiae.Molecular characterization of cell-free eccDNAs in human plasma.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's diseaseDosage-sensitive genes in evolution and disease.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Inter-Fork Strand Annealing causes genomic deletions during the termination of DNA replication.SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.Drosophila Model for the Analysis of Genesis of LIM-kinase 1-Dependent Williams-Beuren Syndrome Cognitive Phenotypes: INDELs, Transposable Elements of the Tc1/Mariner Superfamily and MicroRNAs.Genomic and chromatin features shaping meiotic double-strand break formation and repair in mice.Multi-invasions Are Recombination Byproducts that Induce Chromosomal Rearrangements.In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion.Distinct Trajectories of Massive Recent Gene Gains and Losses in Populations of a Microbial Eukaryotic Pathogen.Genomic disorders 20 years on-mechanisms for clinical manifestations.Comprehensive description of genomewide nucleotide and structural variation in short-season soya bean.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
P2860
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P2860
Mechanisms underlying structural variant formation in genomic disorders
description
2016 nî lūn-bûn
@nan
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Mechanisms underlying structural variant formation in genomic disorders
@ast
Mechanisms underlying structural variant formation in genomic disorders
@en
Mechanisms underlying structural variant formation in genomic disorders
@nl
type
label
Mechanisms underlying structural variant formation in genomic disorders
@ast
Mechanisms underlying structural variant formation in genomic disorders
@en
Mechanisms underlying structural variant formation in genomic disorders
@nl
prefLabel
Mechanisms underlying structural variant formation in genomic disorders
@ast
Mechanisms underlying structural variant formation in genomic disorders
@en
Mechanisms underlying structural variant formation in genomic disorders
@nl
P2860
P3181
P356
P1476
Mechanisms underlying structural variant formation in genomic disorders
@en
P2093
Claudia M B Carvalho
James R Lupski
P2860
P2888
P304
P3181
P356
10.1038/NRG.2015.25
P407
P577
2016-04-01T00:00:00Z
P5875
P6179
1029815690