DNA Copy Number Variations Concept

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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Journal Articles
A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor Journal Articles
A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder Journal Articles
A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment Journal Articles
A genome-wide scan for common alleles affecting risk for autism Journal Articles
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Journal Articles
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Journal Articles
A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction Journal Articles
An emerging role for Wnt and GSK3 signaling pathways in schizophrenia Journal Articles
Analysis of ductal carcinoma in situ by self-reported race reveals molecular differences related to outcome. Journal Articles
Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C Journal Articles
Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer Journal Articles
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis Journal Articles
Clinically detectable copy number variations in a Canadian catchment population of schizophrenia Journal Articles
Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors Journal Articles
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Journal Articles
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy Journal Articles
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies Journal Articles
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Journal Articles
DMG26 Journal Articles
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Journal Articles
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Journal Articles
Deterministic evolution and stringent selection during preneoplasia Journal Articles
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Journal Articles
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Journal Articles
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases Journal Articles
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 Journal Articles
Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma Journal Articles
Functional impact of global rare copy number variation in autism spectrum disorders Journal Articles
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia Journal Articles
Genetic, structural and clinical analysis of spastic paraplegia 4 Journal Articles
Genome-Wide Analysis of Circulating Cell-Free DNA Copy Number Detects Active Melanoma and Predicts Survival. Journal Articles
Genomic architecture of autism from comprehensive whole-genome sequence annotation Journal Articles
Genomic hallmarks of localized, non-indolent prostate cancer Journal Articles
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia Journal Articles
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome Journal Articles
Intertumoral Heterogeneity within Medulloblastoma Subgroups Journal Articles
Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution Journal Articles
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments Journal Articles
Microarray-based cytogenetic profiling reveals recurrent and subtype-associated genomic copy number aberrations in feline sarcomas Journal Articles
Mitochondrial DNA Copy Number as a Marker and Mediator of Stroke Prognosis Journal Articles
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Journal Articles
Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours Journal Articles
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Journal Articles
Pathogenic Germline Variants in 10,389 Adult Cancers Journal Articles
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal Articles
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD Journal Articles
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Journal Articles
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Journal Articles
SHANK1 Deletions in Males with Autism Spectrum Disorder Journal Articles
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees Journal Articles
Serotonergic system antagonists target breast tumor initiating cells and synergize with chemotherapy to shrink human breast tumor xenografts Journal Articles
Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype Journal Articles
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p Journal Articles
StrandAdvantage test for early‐line and advanced‐stage treatment decisions in solid tumors Journal Articles
Subgroup-specific structural variation across 1,000 medulloblastoma genomes Journal Articles
Targeted copy number variant identification across the neurodegenerative disease spectrum Journal Articles
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism Journal Articles
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder Journal Articles
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies Journal Articles
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population Journal Articles
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder Journal Articles