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No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
The 15q11.2 BP1-BP2 copy number variant (CNV) is associated with altered brain morphology and risk for atypical development, including increased risk...
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Copy number deletion of PLA2G4A affects the susceptibility and clinical phenotypes of schizophrenia
Phospholipase A2(PLA2) superfamily is recognized as being involved in the pathogenesis of schizophrenia by affecting lipid homeostasis in cell...
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Copy Number Variation and Osteoporosis
Purpose of ReviewThe purpose of this review is to summarize recent findings on copy number variations and susceptibility to osteoporosis.
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The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes
PurposeThis study aimed to investigate the correlation between chromosomal abnormalities in spontaneous abortion with clinical features and seek copy...
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High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants
PurposeThis study aimed to evaluate whether a high-throughput high-resolution PGT-A method can detect copy number variants (CNVs) that could have...
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Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs)
A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high...
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The contribution of copy number variants to psychiatric symptoms and cognitive ability
Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most frequently studied CNVs, which are described in this review, are...
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A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
The heritability of intelligence or general cognitive ability is estimated at 41% and 66% in children and adults respectively. Many rare copy number...
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Chromosomal copy number amplification-driven Linc01711 contributes to gastric cancer progression through histone modification-mediated reprogramming of cholesterol metabolism
BackgroundChromosome gains or localized amplifications are frequently observed in human gastric cancer (GC) and are major causes of aberrant oncogene...
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Rare copy number variation in posttraumatic stress disorder
Posttraumatic stress disorder (PTSD) is a heritable ( h 2 = 24–71%) psychiatric illness. Copy number variation (CNV) is a form of rare genetic...
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Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability
BackgroundDevelopmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age...
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Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder
While childhood attention-deficit/hyperactivity disorder (ADHD) is more prevalent in males than females, genetic contributors to this effect have not...
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Copy number variation analysis identifies MIR9-3 and MIR1299 as novel miRNA candidate genes for CAKUT
BackgroundCongenital anomalies of the kidney and urinary tract (CAKUT) represent a frequent cause of pediatric kidney failure. CNVs, as a major class...
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Re-stratification of patients with copy-number low endometrial cancer by clinicopathological characteristics
ObjectiveTo stratify patients with copy-number low (CNL) endometrial cancer (EC) by clinicopathological characteristics.
MethodsEC patients who...
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Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age
BackgroundPathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal...
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Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations
Tumor purity, or the relative contribution of tumor cells out of all cells in a pathological specimen, influences mutation identification and...
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Pharmacogenomic insights in psychiatric care: uncovering novel actionability, allele-specific CYP2D6 copy number variation, and phenoconversion in 15,000 patients
Pharmacogenomic testing has emerged as an aid in clinical decision making for psychiatric providers, but more data is needed regarding its utility in...
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Methylation and copy number profiling: emerging tools to differentiate osteoblastoma from malignant mimics?
Rearrangements of the transcription factors FOS and FOSB have recently been identified as the genetic driver event underlying osteoid osteoma and...
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Genomic testing for copy number and single nucleotide variants in spermatogenic failure
PurposeTo identify clinically significant genomic copy number (CNV) and single nucleotide variants (SNV) in males with unexplained spermatogenic...
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Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics
Atypical teratoid/rhabdoid tumors (AT/RT) are the most common malignant brain tumors manifesting in infancy. They split into four molecular types....
