Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples
Sign Up to like & getrecommendations! Published in 2018 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2018.0039
Abstract: Importance; Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because… read more here.
Keywords: copy number; study; effect; cnvs ... See more keywords
Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA psychiatry"
DOI: 10.1001/jamapsychiatry.2021.4080
Abstract: Importance Past studies identified rare copy number variants (CNVs) as risk factors for neurodevelopmental disorders (NDDs), including autism spectrum disorder and schizophrenia. However, the clinical characterization of NDD CNVs is understudied in population cohorts unselected… read more here.
Keywords: cnvs; ancestry; multiancestry biobank; ndd cnvs ... See more keywords
Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray
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DOI: 10.1007/s00246-017-1741-3
Abstract: While the majority of patients have isolated heart disease, congenital heart disease (CHD) may be associated with other congenital anomalies or syndromes. Our institution utilizes chromosomal microarray (CMA) to identify chromosomal abnormalities, specifically copy number… read more here.
Keywords: heart disease; candidate; candidate genes; cnvs ... See more keywords
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02365-1
Abstract: Structural variation includes a change in copy number, orientation, or location of a part of the genome. Copy number variants (CNVs) are a common cause of genetic hearing loss, comprising nearly 20% of diagnosed cases.… read more here.
Keywords: hearing loss; copy number; genetic hearing; cnvs ... See more keywords
The contribution of CNVs to the most common aging-related neurodegenerative diseases
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DOI: 10.1007/s40520-020-01485-4
Abstract: Alzheimer and Parkinson’s diseases are neurodegenerative aging-related pathological conditions, mainly caused by the interplay of genetic and non-genetic factors and whose incidence rate is going to drastically increase given the growing life expectancy. To address… read more here.
Keywords: cnvs common; related neurodegenerative; aging related; common aging ... See more keywords
Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of NIPS-detectable findings.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of obstetrics and gynecology"
DOI: 10.1016/j.ajog.2021.11.016
Abstract: BACKGROUND Chromosomal microarray analysis (CMA) detects clinically significant copy number variants (CNVs) in about 1% of low-risk pregnancies. As the constantly growing wide use of non-invasive prenatal screening (NIPS) facilitates the detection of chromosomal aberrations,… read more here.
Keywords: risk; risk clinically; clinically significant; nips detectable ... See more keywords
Rare Copy Number Variants Are Associated With Poorer Cognition in Schizophrenia
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DOI: 10.1016/j.biopsych.2020.11.025
Abstract: BACKGROUND Cognitive impairment in schizophrenia is a major contributor to poor outcomes, yet its causes are poorly understood. Some rare copy number variants (CNVs) are associated with schizophrenia risk and affect cognition in healthy populations,… read more here.
Keywords: schizophrenia; cognition schizophrenia; cnv carriers; cnvs ... See more keywords
SA63 HIGH RATES OF NEURODEVELOPMENTAL RISK CNVs IN PATIENTS WITH INTELLECTUAL DISABILITIES AND CO-MORBID PSYCHIATRIC DISORDERS
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.135
Abstract: Background Rare Copy Number Variants (CNVs) are known to be important risk factors for Neurodevelopmental Disorders (NDDs). Pathogenic CNVs identified to date confer moderate to large effect sizes (OR 1.5 - 50 or higher) and… read more here.
Keywords: risk; pathogenic cnvs; intellectual disabilities; morbid psychiatric ... See more keywords
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
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DOI: 10.1016/j.gene.2019.05.007
Abstract: In clinical genetics, the need to discriminate between benign and pathogenic variants identified in patients with neurodevelopmental disorders is an absolute necessity. Copy number variants (CNVs) of small size can enable the identification of genes… read more here.
Keywords: copy number; challenges clinical; cnvs; number variants ... See more keywords
CNVs inform the biological network of Autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2021 at "Psychiatry Research"
DOI: 10.1016/j.psychres.2021.113729
Abstract: Autism spectrum disorder (ASD) is a heterogeneous condition linked to an anomalous neurodevelopment. Although the underlying causes of ASD are not well described, literature data strongly suggests a genetic component, with a complex inheritance pattern.… read more here.
Keywords: spectrum disorder; autism spectrum; cnvs;
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00838-1
Abstract: Copy number variants (CNVs), defined as genome sequences of ≥50 bp that differ in copy number from that in a reference genome, are a common form of structural variation. Germline CNVs account for some of the… read more here.
Keywords: large scale; copy number; scale genetic; psychiatric disorders ... See more keywords