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Mechanisms underlying structural variant formation in genomic disorders

Mechanisms underlying structural variant formation in genomic disorders

http://www.wikidata.org/entity/Q26765934

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New insights into the generation and role of de novo mutations in health and disease Major influence of repetitive elements on disease-associated copy number variants (CNVs)Noncanonical views of homology-directed DNA repair Genetics 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 disease Dosage-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.

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Mechanisms underlying structural variant formation in genomic disorders

http://www.wikidata.org/entity/Q26765934

description

2016 nî lūn-bûn

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2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2016 թվականի ապրիլին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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Mechanisms underlying structural variant formation in genomic disorders

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Mechanisms underlying structural variant formation in genomic disorders

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Mechanisms underlying structural variant formation in genomic disorders

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label

Mechanisms underlying structural variant formation in genomic disorders

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Mechanisms underlying structural variant formation in genomic disorders

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Mechanisms underlying structural variant formation in genomic disorders

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prefLabel

Mechanisms underlying structural variant formation in genomic disorders

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Mechanisms underlying structural variant formation in genomic disorders

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Mechanisms underlying structural variant formation in genomic disorders

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Nature Reviews Genetics

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Mechanisms underlying structural variant formation in genomic disorders

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Claudia M B Carvalho

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James R Lupski

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Initial sequencing and analysis of the human genome

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

Mechanisms of change in gene copy number

Mapping and sequencing of structural variation from eight human genomes

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

The Stability of Broken Ends of Chromosomes in Zea Mays.

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

Molecular model for the transposition and replication of bacteriophage Mu and other transposable elements

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scholarly article

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2683957

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10.1038/NRG.2015.25

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4

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17

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296335702

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1029815690

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4827625

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