Item Type | Name |
Academic Article
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Genome architecture, rearrangements and genomic disorders.
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Academic Article
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Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
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Academic Article
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The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
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Academic Article
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Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
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Academic Article
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The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.
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Academic Article
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AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
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Academic Article
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Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
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Academic Article
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A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
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Academic Article
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
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Academic Article
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Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
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Academic Article
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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
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Academic Article
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
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Academic Article
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
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Academic Article
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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
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Academic Article
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Population bottlenecks as a potential major shaping force of human genome architecture.
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Academic Article
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
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Academic Article
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Structural variation in the human genome and its role in disease.
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Academic Article
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HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
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Academic Article
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Microdeletion and microduplication syndromes.
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Academic Article
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
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Academic Article
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
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Academic Article
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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
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Academic Article
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
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Academic Article
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The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
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Academic Article
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Serial segmental duplications during primate evolution result in complex human genome architecture.
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Academic Article
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
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Academic Article
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
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Academic Article
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
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Academic Article
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Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
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Academic Article
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Incidental copy-number variants identified by routine genome testing in a clinical population.
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Academic Article
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
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Academic Article
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Inverted low-copy repeats and genome instability--a genome-wide analysis.
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Academic Article
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Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
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Concept
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Genome, Human
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Concept
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Genome-Wide Association Study
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Concept
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Genome
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Concept
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Genome, Mitochondrial
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Academic Article
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
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Academic Article
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
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Academic Article
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
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Academic Article
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
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Academic Article
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SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
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Academic Article
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Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
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Academic Article
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Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
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Academic Article
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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
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Academic Article
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Assessing structural variation in a personal genome-towards a human reference diploid genome.
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Academic Article
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
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Academic Article
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Somatic mosaicism: implications for disease and transmission genetics.
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Academic Article
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
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Academic Article
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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
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Academic Article
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Mechanisms for Complex Chromosomal Insertions.
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Academic Article
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Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
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Academic Article
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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.
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Academic Article
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Identification of novel candidate disease genes from de novo exonic copy number variants.
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Academic Article
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An estimation of the prevalence of genomic disorders using chromosomal microarray data.
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Academic Article
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Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
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Grant
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Unrecognized scale and clinical relevance of somatic mosaicism
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Academic Article
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
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Concept
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Whole Genome Sequencing
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Academic Article
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
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Academic Article
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
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Academic Article
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Deciphering the complexity of simple chromosomal insertions by genome sequencing.
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Academic Article
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
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Academic Article
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Cloud-native distributed genomic pileup operations.
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Academic Article
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Revised time estimation of the ancestral human chromosome 2 fusion.
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Academic Article
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PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.
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