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