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[HTML][HTML] CNVs: harbingers of a rare variant revolution in psychiatric genetics
D Malhotra, J Sebat - Cell, 2012 - cell.com
The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …
Genome-wide studies of copy number variation (CNV) have given rise to a new …
Of mice and men: molecular genetics of congenital heart disease
TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …
which may be caused by multiple genetic and environmental factors. Studies in human …
The selection landscape and genetic legacy of ancient Eurasians
Abstract The Holocene (beginning around 12,000 years ago) encompassed some of the
most significant changes in human evolution, with far-reaching consequences for the …
most significant changes in human evolution, with far-reaching consequences for the …
Congenital heart disease and neurodevelopment: clinical manifestations, genetics, mechanisms, and implications
SN Nattel, L Adrianzen, EC Kessler… - Canadian Journal of …, 2017 - Elsevier
Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental
disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor …
disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor …
Proliferation and differentiation deficits are a major convergence point for neurodevelopmental disorders
C Ernst - Trends in neurosciences, 2016 - cell.com
Several lines of evidence suggest that proliferation and differentiation in neural stem cells
(NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most …
(NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most …
Copy number variations in neurodevelopmental disorders
Common neurodevelopmental disorders (including autism, speech and language delay,
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …
Regulation of neuronal migration, an emerging topic in autism spectrum disorders
Autism spectrum disorders (ASD) encompass a group of neurodevelopmental diseases that
demonstrate strong heritability, however, the inheritance is not simple and many genes have …
demonstrate strong heritability, however, the inheritance is not simple and many genes have …
Male-biased autosomal effect of 16p13. 11 copy number variation in neurodevelopmental disorders
Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …
range of neurodevelopmental disorders including autism, ADHD, intellectual disability and …
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or …
Congenital heart disease (CHD) is the most common congenital malformation, with
evidence of a strong genetic component. We analyzed data from 223 consecutively …
evidence of a strong genetic component. We analyzed data from 223 consecutively …
Effect of copy number variants on outcomes for infants with single ventricle heart defects
AS Carey, L Liang, J Edwards, T Brandt… - Circulation …, 2013 - ahajournals.org
Background—Human genomes harbor copy number variants (CNVs), which are regions of
DNA gains or losses. Although pathogenic CNVs are associated with congenital heart …
DNA gains or losses. Although pathogenic CNVs are associated with congenital heart …