Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
Sign Up to like & getrecommendations! Published in 2020 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2020.2159
Abstract: This cohort study evaluates the suitability of including pathogenic copy number variants associated with neuropsychiatric disorders in population screening by determining their prevalence and penetrance and exploring the personal utility of disclosing results. read more here.
Keywords: neuropsychiatric copy; number variants; copy number; identification neuropsychiatric ... See more keywords
Chromosome copy number variants in fetuses with syndromic malformations
Sign Up to like & getrecommendations! Published in 2017 at "Birth Defects Research"
DOI: 10.1002/bdr2.1054
Abstract: Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide‐spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be… read more here.
Keywords: copy number; syndromic malformations; fetuses syndromic; chromosome copy ... See more keywords
Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2018 at "Developmental Neurobiology"
DOI: 10.1002/dneu.22587
Abstract: Deletions and duplications, called reciprocal CNVs when they occur at the same locus, are implicated in neurodevelopmental phenotypes ranging from morphological to behavioral. In this article, we propose three models of how differences in gene… read more here.
Keywords: copy number; variants roles; reciprocal copy; number variants ... See more keywords
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.23970
Abstract: Recent studies show that the complex genetic architecture of schizophrenia (SZ) is driven in part by polygenic components, or the cumulative effect of variants of small effect in many genes, as well as rare single‐locus… read more here.
Keywords: genetic architecture; number variants; copy number; neuropsychiatric disorders ... See more keywords
Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Cardiology"
DOI: 10.1007/s00246-018-1842-7
Abstract: Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac… read more here.
Keywords: copy number; cryptic chromosomal; number variants; congenital heart ... See more keywords
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
Sign Up to like & getrecommendations! Published in 2018 at "Behavior Genetics"
DOI: 10.1007/s10519-018-9902-6
Abstract: A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to… read more here.
Keywords: copy number; intellectual disability; morbid psychiatric; disability morbid ... See more keywords
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.08.082
Abstract: SUMMARY We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set… read more here.
Keywords: copy number; disorder; number variants; cell ... See more keywords
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
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
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of biotechnology"
DOI: 10.1016/j.jbiotec.2019.04.025
Abstract: Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors… read more here.
Keywords: copy number; heart diseases; multiplex ligation; chd ... See more keywords
Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100470
Abstract: Objectives The gene encoding glucose transporter 3 (GLUT3, SLC2A3) is present in the human population at variable copy number. An overt disease phenotype of SLC2A3 copy number variants has not been reported; however, deletion of… read more here.
Keywords: number variants; copy number; rheumatoid arthritis;
Psychopathology in adults with copy number variants.
Sign Up to like & getrecommendations! Published in 2022 at "Psychological medicine"
DOI: 10.1017/s0033291721005201
Abstract: BACKGROUND Copy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood. METHODS We investigated the psychiatric phenotypes of… read more here.
Keywords: number variants; number; high rates; copy number ... See more keywords