DNA Copy Number Variations
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subject area of
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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Academic Article
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A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor Academic Article
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A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder Academic Article
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A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment Academic Article
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A genome-wide scan for common alleles affecting risk for autism Academic Article
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Academic Article
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Academic Article
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An emerging role for Wnt and GSK3 signaling pathways in schizophrenia Academic Article
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Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer Academic Article
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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis Academic Article
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Clinically detectable copy number variations in a Canadian catchment population of schizophrenia Academic Article
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Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors Academic Article
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Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Academic Article
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Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies Academic Article
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Academic Article
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DMG26 Academic Article
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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Academic Article
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Academic Article
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Academic Article
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Academic Article
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Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases Academic Article
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Evaluation of DNA Methylation Array for Glioma Tumor Profiling and Description of a Novel Epi-Signature to Distinguish IDH1/IDH2 Mutant and Wild-Type Tumors Academic Article
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Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma Academic Article
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Functional impact of global rare copy number variation in autism spectrum disorders Academic Article
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GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia Academic Article
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Genetic, structural and clinical analysis of spastic paraplegia 4 Academic Article
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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations Academic Article
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Genomic architecture of autism from comprehensive whole-genome sequence annotation Academic Article
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Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia Academic Article
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Intertumoral Heterogeneity within Medulloblastoma Subgroups Academic Article
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Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution Academic Article
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments Academic Article
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Mitochondrial DNA Copy Number as a Marker and Mediator of Stroke Prognosis Academic Article
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Academic Article
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Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours Academic Article
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Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Academic Article
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Academic Article
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Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Academic Article
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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders Academic Article
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Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD Academic Article
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Academic Article
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SHANK1 Deletions in Males with Autism Spectrum Disorder Academic Article
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Segregating patterns of copy number variations in extended autism spectrum disorder (
ASD
) pedigrees Academic Article
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Serotonergic system antagonists target breast tumor initiating cells and synergize with chemotherapy to shrink human breast tumor xenografts Academic Article
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Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype Academic Article
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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p Academic Article
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StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors Academic Article
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Subgroup-specific structural variation across 1,000 medulloblastoma genomes Academic Article
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Targeted copy number variant identification across the neurodegenerative disease spectrum Academic Article
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The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism Academic Article
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The phenotypic manifestations of rare genic CNVs in autism spectrum disorder Academic Article
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies Academic Article
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Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a
Canadian
population Academic Article
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder Academic Article