Genotype to phenotype relationships in autism spectrum disorders.

PubWeight™: 1.05‹?› | Rank: Top 15%

🔗 View Article (PMC 4397214)

Published in Nat Neurosci on December 22, 2014

Authors

Jonathan Chang1, Sarah R Gilman1, Andrew H Chiang1, Stephan J Sanders2, Dennis Vitkup1

Author Affiliations

1: 1] Department of Biomedical Informatics, Columbia University, New York, New York, USA. [2] Department of Systems Biology, Center for Computational Biology and Bioinformatics, Columbia University, New York, New York, USA.
2: 1] Department of Psychiatry, University of California, San Francisco, California, USA. [2] Department of Psychiatry, Department of Genetics, Yale University, New Haven, Connecticut, USA.

Articles citing this

Spine pruning drives antipsychotic-sensitive locomotion via circuit control of striatal dopamine. Nat Neurosci (2015) 2.89

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron (2015) 1.91

Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders - promises and limitations. J Child Psychol Psychiatry (2016) 1.42

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet (2015) 1.14

Behavioral, perceptual, and neural alterations in sensory and multisensory function in autism spectrum disorder. Prog Neurobiol (2015) 0.99

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci (2016) 0.87

Sex differences in neurodevelopmental and neurodegenerative disorders: Focus on microglial function and neuroinflammation during development. J Steroid Biochem Mol Biol (2015) 0.86

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. Neurotherapeutics (2015) 0.85

Striatal Circuits as a Common Node for Autism Pathophysiology. Front Neurosci (2016) 0.84

The Regulatory Machinery of Neurodegeneration in In Vitro Models of Amyotrophic Lateral Sclerosis. Cell Rep (2015) 0.84

Identification of chemicals that mimic transcriptional changes associated with autism, brain aging and neurodegeneration. Nat Commun (2016) 0.83

Exploiting single-cell expression to characterize co-expression replicability. Genome Biol (2016) 0.81

Putative Microcircuit-Level Substrates for Attention Are Disrupted in Mouse Models of Autism. Biol Psychiatry (2015) 0.80

A Short Review on the Current Understanding of Autism Spectrum Disorders. Exp Neurobiol (2016) 0.80

Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. Front Genet (2015) 0.78

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links. Neuroscience (2015) 0.78

Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder. Epigenomics (2015) 0.77

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism. J Neurodev Disord (2017) 0.76

Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. Front Psychiatry (2016) 0.76

Increased burden of deleterious variants in essential genes in autism spectrum disorder. Proc Natl Acad Sci U S A (2016) 0.75

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development. Neuron (2017) 0.75

A model-driven methodology for exploring complex disease comorbidities applied to autism spectrum disorder and inflammatory bowel disease. J Biomed Inform (2016) 0.75

Disease Risk Assessment Using a Voronoi-Based Network Analysis of Genes and Variants Scores. Front Genet (2017) 0.75

Knowledge-Guided Bioinformatics Model for Identifying Autism Spectrum Disorder Diagnostic MicroRNA Biomarkers. Sci Rep (2016) 0.75

12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments. Mol Cytogenet (2016) 0.75

Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders? Front Neurosci (2016) 0.75

Can Mouse Imaging Studies Bring Order to Autism Connectivity Chaos? Front Neurosci (2016) 0.75

Epigenomic-basis of Preemptive Medicine for Neurodevelopmental Disorders. Curr Genomics (2015) 0.75

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Clin Transl Med (2016) 0.75

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry (2017) 0.75

Bio-collections in autism research. Mol Autism (2017) 0.75

Dysregulation of Alternative Poly-adenylation as a Potential Player in Autism Spectrum Disorder. Front Mol Neurosci (2017) 0.75

Autism spectrum disorder in sub-saharan africa: A comprehensive scoping review. Autism Res (2017) 0.75

Genetic tests in major psychiatric disorders-integrating molecular medicine with clinical psychiatry-why is it so difficult? Transl Psychiatry (2017) 0.75

Articles cited by this

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc (2009) 137.99

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord (1994) 42.80

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76

Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66

De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61

Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 12.18

Genetic heterogeneity in human disease. Cell (2010) 10.67

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61

De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69

Spatio-temporal transcriptome of the human brain. Nature (2011) 9.19

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell (2011) 8.46

Application of a translational profiling approach for the comparative analysis of CNS cell types. Cell (2008) 7.74

Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci U S A (2002) 6.45

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21

The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94

Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78

Epidemiology of pervasive developmental disorders. Pediatr Res (2009) 5.52

The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron (2010) 5.14

Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron (2011) 4.66

The epidemiology of autism spectrum disorders. Annu Rev Public Health (2007) 4.52

A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00

Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132. Neuron (2010) 3.96

De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81

The autistic neuron: troubled translation? Cell (2008) 3.81

Characterization of the proteome, diseases and evolution of the human postsynaptic density. Nat Neurosci (2010) 3.67

The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry (2006) 3.63

A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A (2007) 3.47

Signal-processing machines at the postsynaptic density. Science (2000) 3.47

Network properties of genes harboring inherited disease mutations. Proc Natl Acad Sci U S A (2008) 3.37

Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell (2014) 3.19

What does the amygdala contribute to social cognition? Ann N Y Acad Sci (2010) 3.11

FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature (2012) 2.95

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell (2013) 2.94

Genetics of autism spectrum disorders. Trends Cogn Sci (2011) 2.61

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol (2012) 2.42

From neural development to cognition: unexpected roles for chromatin. Nat Rev Genet (2013) 2.42

Corticostriatal connectivity and its role in disease. Nat Rev Neurosci (2013) 2.34

Optogenetic stimulation of lateral orbitofronto-striatal pathway suppresses compulsive behaviors. Science (2013) 2.21

The postsynaptic density at glutamatergic synapses. Trends Neurosci (1997) 2.16

Exaggerated translation causes synaptic and behavioural aberrations associated with autism. Nature (2012) 1.98

Enlightening the postsynaptic density. Neuron (1997) 1.92

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci (2009) 1.84

Autism genetics: searching for specificity and convergence. Genome Biol (2012) 1.70

Predicting genes for orphan metabolic activities using phylogenetic profiles. Genome Biol (2006) 1.68

The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory. Nat Neurosci (2013) 1.36

Diverse types of genetic variation converge on functional gene networks involved in schizophrenia. Nat Neurosci (2012) 1.34

Molecular mechanisms of autism: a possible role for Ca2+ signaling. Curr Opin Neurobiol (2007) 1.32

The neurobiology of repetitive behavior: …and men. Neurosci Biobehav Rev (2010) 1.23