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Spectrum: Autism Research News

Tag: exome

June 2014

Great sequencing power — great responsibility

by ,  /  6 June 2014

Chris Gunter and Daniel MacArthur discuss guidelines for assessing the evidence that a genetic variant causes autism or another disorder.

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Genetics: Gene linked to adult regression implicated in Rett

by  /  3 June 2014

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.

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May 2014

Network of autism-linked proteins reveals new interactions

by  /  12 May 2014

Researchers have mapped interactions between hundreds of variants of proteins made from known autism risk genes, they reported 11 April in Nature Communications. The highly connected network reveals that autism genes tend to interact with each other and with many more partners than suspected.

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April 2014

Genetics: New autism mutations affect DNA packaging

by  /  8 April 2014

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.

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March 2014

Joseph Gleeson on finding treatable forms of autism

 /  26 March 2014

Watch the complete replay of Joseph Gleeson explaining how DNA sequencing can help find treatments, including dietary supplements, for rare types of autism.

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Girls protected from autism, study suggests

by  /  10 March 2014

It takes more mutations to trigger autism in women than in men, which may explain why men are four times more likely to have the disorder, according to a study published 26 February in the American Journal of Human Genetics.

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February 2014

First 1,000 days of life could hold keys to autism

by  /  17 February 2014

Autism researchers have high hopes for a new project called the First 1,000 Days of Life, which aims to follow 5,000 women and their babies from pregnancy through two years after birth.

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Multimodal mouse model for autism

by  /  11 February 2014

A new paper accomplishes a rare feat, linking human genetics with physiology, behavior and a therapeutic in a compelling mouse model of autism, says Alan Packer.

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January 2014

Study pinpoints autism gene in mutation-prone region

by  /  27 January 2014

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published 7 January in the Proceedings of the National Academy of Sciences.

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November 2013

Genetic analysis links autism to missing brain structure

by  /  11 November 2013

The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published 3 October in PLoS Genetics. 

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