Genetics

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Source: 
PubMed
Date Published: 
April 4, 2012
Abstract: 

Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Source: 
PubMed
Date Published: 
April 4, 2012
Abstract: 

Control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.

Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.

Source: 
PubMed
Date Published: 
October 2012
Abstract: 

Results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Source: 
PubMed
Date Published: 
March 16, 2012
Abstract: 

CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole-genome sequencing.

De Novo Gene Disruptions in Children on the Autistic Spectrum.

Source: 
Neuron
Date Published: 
April 26, 2012
Abstract: 

FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Source: 
PubMed
Date Published: 
April 2012
Abstract: 

Findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Genetic Architecture in Autism Spectrum Disorder.

Source: 
Current Opinion in Genetics and Development
Date Published: 
June 2012
Abstract: 

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

The genetic variability and commonality of neurodevelopmental disease.

Source: 
PubMed
Date Published: 
May 15, 2010
Abstract: 

Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways.

Autistic-like Behaviour and Cerebellar Dysfunction in Purkinje cell Tsc1 Mutant Mice.

Source: 
Nature
Date Published: 
August 30, 2012
Abstract: 

Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.

Autism-associated promoter variant in MET impacts functional and structural brain networks.

Source: 
PubMed
Date Published: 
Sept. 6, 2012
Abstract: 

Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.