Autism risk factors: genes, environment, and gene-environment interactions
The aim of this review is to summarize the key findings from genetic and epidemiological
research, which show that autism is a complex disorder resulting from the combination of …
research, which show that autism is a complex disorder resulting from the combination of …
[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 …
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
[HTML][HTML] De novo gene disruptions in children on the autistic spectrum
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
Genetic architecture in autism spectrum disorder
B Devlin, SW Scherer - Current opinion in genetics & development, 2012 - Elsevier
Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social
interaction and communication, and by restricted and repetitive behaviors. Family studies …
interaction and communication, and by restricted and repetitive behaviors. Family studies …
[HTML][HTML] Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses
Mutations that cause intellectual disability (ID) and autism spectrum disorder (ASD) are
commonly found in genes that encode for synaptic proteins. However, it remains unclear …
commonly found in genes that encode for synaptic proteins. However, it remains unclear …
[HTML][HTML] Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
CS Leblond, J Heinrich, R Delorme, C Proepper… - PLoS …, 2012 - journals.plos.org
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental
disorders with a complex inheritance pattern. While many rare variants in synaptic proteins …
disorders with a complex inheritance pattern. While many rare variants in synaptic proteins …
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 …
[HTML][HTML] Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
A Goriely, AOM Wilkie - The American Journal of Human Genetics, 2012 - cell.com
Advanced paternal age has been associated with an increased risk for spontaneous
congenital disorders and common complex diseases (such as some cancers, schizophrenia …
congenital disorders and common complex diseases (such as some cancers, schizophrenia …
[HTML][HTML] Chapter 5: Network biology approach to complex diseases
DY Cho, YA Kim, TM Przytycka - PLoS computational biology, 2012 - journals.plos.org
Complex diseases are caused by a combination of genetic and environmental factors.
Uncovering the molecular pathways through which genetic factors affect a phenotype is …
Uncovering the molecular pathways through which genetic factors affect a phenotype is …