Item Type | Name |
Academic Article
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Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria.
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Academic Article
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Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
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Academic Article
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Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
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Academic Article
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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
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Academic Article
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Genome architecture, rearrangements and genomic disorders.
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Academic Article
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Localization of mariner DNA transposons in the human genome by PRINS.
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Academic Article
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Molecular mechanisms for genomic disorders.
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Academic Article
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Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites.
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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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Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
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Academic Article
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Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
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Academic Article
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Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
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Academic Article
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A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
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Academic Article
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Short, interspersed repetitive DNA sequences in prokaryotic genomes.
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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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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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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
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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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2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
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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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The complete genome of an individual by massively parallel DNA sequencing.
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Academic Article
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Complex human chromosomal and genomic rearrangements.
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Academic Article
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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
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Academic Article
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Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
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Academic Article
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Retrotransposition and structural variation in the human genome.
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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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Genome Medicine: past, present and future.
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Academic Article
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Clan genomics and the complex architecture of human disease.
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Academic Article
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What have studies of genomic disorders taught us about our genome?
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Academic Article
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Genome structural variation and sporadic disease traits.
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Academic Article
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Mechanisms for recurrent and complex human genomic rearrangements.
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Academic Article
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Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
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Academic Article
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
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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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Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
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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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Population bottlenecks as a potential major shaping force of human genome architecture.
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Academic Article
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Copy number variation at the breakpoint region of isochromosome 17q.
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Academic Article
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The genomic basis of disease, mechanisms and assays for genomic disorders.
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Academic Article
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Genomic disorders ten years on.
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Academic Article
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Mechanisms of change in gene copy number.
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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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Genomic and clinical characteristics of microduplications in chromosome 17.
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Academic Article
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
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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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Structural variation of the human genome: mechanisms, assays, and role in male infertility.
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Academic Article
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Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.
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Academic Article
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Looking back at genomic medicine in 2011.
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Academic Article
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Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.
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Academic Article
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
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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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Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
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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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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
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Academic Article
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Structural variation in the human genome.
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Academic Article
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Completing the map of human genetic variation.
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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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Schizophrenia: Incriminating genomic evidence.
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Academic Article
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CNV and nervous system diseases--what's new?
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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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Personal genome research : what should the participant be told?
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Academic Article
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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
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Academic Article
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Whole-genome sequencing for optimized patient management.
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Academic Article
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Human genome sequencing in health and disease.
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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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Generation of the Sotos syndrome deletion in mice.
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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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Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
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Concept
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Human Genome Project
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Concept
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Genome, Human
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Concept
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Genome, Bacterial
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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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Molecular and genetic bases of disease.
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Academic Article
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Genetics. Genome mosaicism--one human, multiple genomes.
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Academic Article
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Detection of clinically relevant copy number variants with whole-exome sequencing.
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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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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
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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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2012 highlights in translational 'omics.
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Academic Article
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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
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Academic Article
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Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
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Academic Article
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CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.
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Academic Article
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
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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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Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?).
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Academic Article
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Non-coding genetic variants in human disease.
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Academic Article
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Secondary findings and carrier test frequencies in a large multiethnic sample.
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Academic Article
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From genes to genomes in the clinic.
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Academic Article
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
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Academic Article
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
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Academic Article
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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
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Academic Article
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POGZ truncating alleles cause syndromic intellectual disability.
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Academic Article
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
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Academic Article
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Molecular diagnostic experience of whole-exome sequencing in adult patients.
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Academic Article
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
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Academic Article
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
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Academic Article
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From genomic medicine to precision medicine: highlights of 2015.
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Academic Article
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
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Academic Article
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Mechanisms underlying structural variant formation in genomic disorders.
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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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Clinical genomics: from a truly personal genome viewpoint.
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Academic Article
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Structural variation mutagenesis of the human genome: Impact on disease and evolution.
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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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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
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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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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
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Academic Article
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
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Academic Article
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
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Academic Article
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Lessons learned from additional research analyses of unsolved clinical exome cases.
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Academic Article
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Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
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Academic Article
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
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Academic Article
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
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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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Genomic disorders 20 years on-mechanisms for clinical manifestations.
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Academic Article
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
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Academic Article
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
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Academic Article
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
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Academic Article
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
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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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Academic Article
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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
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Academic Article
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Insights into genetics, human biology and disease gleaned from family based genomic studies.
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Academic Article
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Genetic architecture of laterality defects revealed by whole exome sequencing.
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Grant
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CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
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Grant
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Chromosome Rearrangements and Mental Retardation
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Grant
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STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
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Grant
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COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
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Academic Article
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2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
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Academic Article
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Ten years of Genome Medicine.
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Academic Article
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
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Academic Article
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
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Academic Article
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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
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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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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
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Academic Article
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The Deep Genome Project.
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Academic Article
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
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Academic Article
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Cytogenetically visible inversions are formed by multiple molecular mechanisms.
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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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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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Academic Article
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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
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Academic Article
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Exome variant discrepancies due to reference-genome differences.
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Academic Article
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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
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Academic Article
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Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.
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Academic Article
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
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Academic Article
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
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Academic Article
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
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