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A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
A developmental and genetic classification for malformations of cortical development: update 2012
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
Integrative functional genomic analysis of human brain development and neuropsychiatric risks
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …
us uniquely human. The development of the brain is a highly complex process, and this …
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
Humans vary substantially in their willingness to take risks. In a combined sample of over 1
million individuals, we conducted genome-wide association studies (GWAS) of general risk …
million individuals, we conducted genome-wide association studies (GWAS) of general risk …
De Novo Mutations in Moderate or Severe Intellectual Disability
Genetics is believed to have an important role in intellectual disability (ID). Recent studies
have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which …
have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which …
[HTML][HTML] Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra… - Cell, 2012 - cell.com
De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …
Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content
Abstract Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and
other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the …
other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the …
Hirschsprung disease, associated syndromes and genetics: a review
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …
of functional intestinal obstruction with an incidence of 1/5000 live births. This …
[HTML][HTML] Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
Plasmacytoid dendritic cells (PDCs) represent a unique immune cell type specialized in type
I interferon (IFN) secretion in response to viral nucleic acids. The molecular control of PDC …
I interferon (IFN) secretion in response to viral nucleic acids. The molecular control of PDC …
Genetic and epigenetic networks in intellectual disabilities
H Van Bokhoven - Annual review of genetics, 2011 - annualreviews.org
Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …