NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
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Mechanisms underlying structural variant formation in genomic disordersUnrevealed mosaicism in the next-generation sequencing eraHuman molecular cytogenetics: From cells to nucleotidesStructural variation mutagenesis of the human genome: Impact on disease and evolution.Major influence of repetitive elements on disease-associated copy number variants (CNVs)CNVs in neuropsychiatric disordersPacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variationsCoherent somatic mutation in autoimmune disease.The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.Passage number is a major contributor to genomic structural variations in mouse iPSCs.Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.6q22.1 microdeletion and susceptibility to pediatric epilepsy.Genome architecture and its roles in human copy number variation.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Arabidopsis thaliana population analysis reveals high plasticity of the genomic region spanning MSH2, AT3G18530 and AT3G18535 genes and provides evidence for NAHR-driven recurrent CNV events occurring in this location.Copy number variations and cognitive phenotypes in unselected populationsMechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationRecurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Characterizing polymorphic inversions in human genomes by single-cell sequencing.The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of ageMechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.Pathogenic or not? Assessing the clinical relevance of copy number variants.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens.Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndromeDNA recombination. Recombination initiation maps of individual human genomes.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Identification of novel candidate disease genes from de novo exonic copy number variants.Multi-invasions Are Recombination Byproducts that Induce Chromosomal Rearrangements.De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 08 May 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@en
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@nl
type
label
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@en
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@nl
prefLabel
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@en
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@nl
P2093
P2860
P50
P356
P1433
P1476
NAHR-mediated copy-number vari ...... orders and Mendelizing traits.
@en
P2093
Abby K Stevens
Aleksandar Milosavljevic
Ankita Patel
Anna Gambin
Arthur L Beaudet
Carlos A Bacino
Christian P Schaaf
Daryl A Scott
David Francis
James R Lupski
P2860
P304
P356
10.1101/GR.152454.112
P577
2013-05-08T00:00:00Z