[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 …

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 …

The selection landscape and genetic legacy of ancient Eurasians

EK Irving-Pease, A Refoyo-Martínez, W Barrie… - Nature, 2024 - nature.com
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 …

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 …

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 …

Copy number variations in neurodevelopmental disorders

HM Grayton, C Fernandes, D Rujescu… - Progress in …, 2012 - Elsevier
Common neurodevelopmental disorders (including autism, speech and language delay,
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …

Regulation of neuronal migration, an emerging topic in autism spectrum disorders

O Reiner, E Karzbrun, A Kshirsagar… - Journal of …, 2016 - Wiley Online Library
Autism spectrum disorders (ASD) encompass a group of neurodevelopmental diseases that
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

M Tropeano, JW Ahn, RJB Dobson, G Breen, J Rucker… - PloS one, 2013 - journals.plos.org
Copy number variants (CNVs) at chromosome 16p13. 11 have been associated with a
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 …

D Warburton, M Ronemus, J Kline, V Jobanputra… - Human genetics, 2014 - Springer
Congenital heart disease (CHD) is the most common congenital malformation, with
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 …