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One or more keywords matched the following items that are connected to LUPSKI, JAMES
Item TypeName
Academic Article Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria.
Academic Article Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
Academic Article Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
Academic Article Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
Academic Article The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
Academic Article Genome architecture, rearrangements and genomic disorders.
Academic Article Localization of mariner DNA transposons in the human genome by PRINS.
Academic Article Molecular mechanisms for genomic disorders.
Academic Article Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites.
Academic Article Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
Academic Article Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
Academic Article Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
Academic Article A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
Academic Article Short, interspersed repetitive DNA sequences in prokaryotic genomes.
Academic Article 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.
Academic Article 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.
Academic Article Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
Academic Article AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Academic Article 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
Academic Article Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Academic Article The complete genome of an individual by massively parallel DNA sequencing.
Academic Article Complex human chromosomal and genomic rearrangements.
Academic Article Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
Academic Article Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
Academic Article Retrotransposition and structural variation in the human genome.
Academic Article 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.
Academic Article Genome Medicine: past, present and future.
Academic Article Clan genomics and the complex architecture of human disease.
Academic Article What have studies of genomic disorders taught us about our genome?
Academic Article Genome structural variation and sporadic disease traits.
Academic Article Mechanisms for recurrent and complex human genomic rearrangements.
Academic Article Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
Academic Article The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Academic Article Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
Academic Article Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
Academic Article Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
Academic Article Population bottlenecks as a potential major shaping force of human genome architecture.
Academic Article Copy number variation at the breakpoint region of isochromosome 17q.
Academic Article The genomic basis of disease, mechanisms and assays for genomic disorders.
Academic Article Genomic disorders ten years on.
Academic Article Mechanisms of change in gene copy number.
Academic Article Structural variation in the human genome and its role in disease.
Academic Article Genomic and clinical characteristics of microduplications in chromosome 17.
Academic Article Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Academic Article Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Academic Article Structural variation of the human genome: mechanisms, assays, and role in male infertility.
Academic Article Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.
Academic Article Looking back at genomic medicine in 2011.
Academic Article Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.
Academic Article Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Academic Article An evaluation of the draft human genome sequence.
Academic Article Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Academic Article Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Academic Article The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Academic Article 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.
Academic Article Serial segmental duplications during primate evolution result in complex human genome architecture.
Academic Article Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
Academic Article Structural variation in the human genome.
Academic Article Completing the map of human genetic variation.
Academic Article Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article Schizophrenia: Incriminating genomic evidence.
Academic Article CNV and nervous system diseases--what's new?
Academic Article Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article Personal genome research : what should the participant be told?
Academic Article GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Academic Article Whole-genome sequencing for optimized patient management.
Academic Article Human genome sequencing in health and disease.
Academic Article Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article Generation of the Sotos syndrome deletion in mice.
Academic Article Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Academic Article Inverted low-copy repeats and genome instability--a genome-wide analysis.
Academic Article Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
Concept Human Genome Project
Concept Genome, Human
Concept Genome, Bacterial
Concept Genome-Wide Association Study
Concept Genome
Concept Genome, Mitochondrial
Academic Article NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Academic Article Molecular and genetic bases of disease.
Academic Article Genetics. Genome mosaicism--one human, multiple genomes.
Academic Article Detection of clinically relevant copy number variants with whole-exome sequencing.
Academic Article Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
Academic Article De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
Academic Article Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Academic Article 2012 highlights in translational 'omics.
Academic Article Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Academic Article Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Academic Article CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.
Academic Article Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Academic Article Assessing structural variation in a personal genome-towards a human reference diploid genome.
Academic Article Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article Somatic mosaicism: implications for disease and transmission genetics.
Academic Article Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?).
Academic Article Non-coding genetic variants in human disease.
Academic Article Secondary findings and carrier test frequencies in a large multiethnic sample.
Academic Article From genes to genomes in the clinic.
Academic Article Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Academic Article Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Academic Article Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Academic Article POGZ truncating alleles cause syndromic intellectual disability.
Academic Article A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Academic Article Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Academic Article Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Academic Article From genomic medicine to precision medicine: highlights of 2015.
Academic Article A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
Academic Article Mechanisms underlying structural variant formation in genomic disorders.
Academic Article Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article Clinical genomics: from a truly personal genome viewpoint.
Academic Article Structural variation mutagenesis of the human genome: Impact on disease and evolution.
Academic Article Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Academic Article Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Academic Article Mechanisms for Complex Chromosomal Insertions.
Academic Article A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Academic Article MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Academic Article Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Academic Article Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
Academic Article Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Academic Article Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Academic Article Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article Genomic disorders 20 years on-mechanisms for clinical manifestations.
Academic Article Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Academic Article Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Academic Article Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Academic Article 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.
Academic Article Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Academic Article 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.
Academic Article Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article Genetic architecture of laterality defects revealed by whole exome sequencing.
Grant MUTATIONAL SIGNATURE(S) OF HUMAN GENOMIC REARRANGEMENT MECHANISMS
Grant CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
Grant Chromosome Rearrangements and Mental Retardation
Grant STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
Grant COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
Academic Article 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
Academic Article Ten years of Genome Medicine.
Academic Article Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Academic Article De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Academic Article 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.
Academic Article Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Concept Whole Genome Sequencing
Academic Article Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Academic Article The Deep Genome Project.
Academic Article Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Academic Article Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Academic Article Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
Academic Article Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Academic Article Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Academic Article Exome variant discrepancies due to reference-genome differences.
Academic Article IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Grant Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Academic Article Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.
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