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 …
[HTML][HTML] Serotonin in the modulation of neural plasticity and networks: implications for neurodevelopmental disorders
KP Lesch, J Waider - Neuron, 2012 - cell.com
Serotonin (5-HT) shapes brain networks during development and modulates a wide
spectrum of essential neuronal functions ranging from perception and cognitive appraisal to …
spectrum of essential neuronal functions ranging from perception and cognitive appraisal to …
ADHD and autism: differential diagnosis or overlapping traits? A selective review
R Taurines, C Schwenck, E Westerwald… - ADHD Attention Deficit …, 2012 - Springer
Abstract According to DSM-IV TR and ICD-10, a diagnosis of autism or Asperger Syndrome
precludes a diagnosis of attention-deficit/hyperactivity disorder (ADHD). However, despite …
precludes a diagnosis of attention-deficit/hyperactivity disorder (ADHD). However, despite …
Synaptopathies: diseases of the synaptome
SGN Grant - Current opinion in neurobiology, 2012 - Elsevier
The human synapse proteome is a highly complex collection of proteins that is disrupted by
hundreds of gene mutations causing over 100 brain diseases. These synaptic diseases, or …
hundreds of gene mutations causing over 100 brain diseases. These synaptic diseases, or …
[HTML][HTML] Copy-number disorders are a common cause of congenital kidney malformations
S Sanna-Cherchi, K Kiryluk, KE Burgess… - The American Journal of …, 2012 - cell.com
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with
renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent …
renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent …
Next-generation treatments for mental disorders
TR Insel - Science translational medicine, 2012 - science.org
There has been a steady retreat by the private sector away from developing medications for
mental disorders. This retreat comes just as research is identifying new molecular targets …
mental disorders. This retreat comes just as research is identifying new molecular targets …
[HTML][HTML] Phasing of many thousands of genotyped samples
Haplotypes are an important resource for a large number of applications in human genetics,
but computationally inferred haplotypes are subject to switch errors that decrease their utility …
but computationally inferred haplotypes are subject to switch errors that decrease their utility …
TNiK is required for postsynaptic and nuclear signaling pathways and cognitive function
MP Coba, NH Komiyama… - Journal of …, 2012 - Soc Neuroscience
Traf2 and NcK interacting kinase (TNiK) contains serine-threonine kinase and scaffold
domains and has been implicated in cell proliferation and glutamate receptor regulation in …
domains and has been implicated in cell proliferation and glutamate receptor regulation in …
Confluence of genes, environment, development, and behavior in a post Genome-Wide Association Study world
This article serves to outline a research paradigm to investigate main effects and interactions
of genes, environment, and development on behavior and psychiatric illness. We provide a …
of genes, environment, and development on behavior and psychiatric illness. We provide a …
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
AV Dharmadhikari, SHL Kang… - Human molecular …, 2012 - academic.oup.com
We have identified a rare small (∼ 450 kb unique sequence) recurrent deletion in a
previously linked attention-deficit hyperactivity disorder (ADHD) locus at 2q21. 1 in five …
previously linked attention-deficit hyperactivity disorder (ADHD) locus at 2q21. 1 in five …