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Spectrum: Autism Research News

Tag: exome

March 2018
Neurons from mice missing OTUD7A (right) have fewer spines than do those from controls (left).

Studies pinpoint key gene in region linked to autism

by  /  21 March 2018

A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.

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September 2017
Illustration of DNA in cross stitch pattern

Sizeable fraction of autism risk traced to ‘mosaic’ mutations

by  /  14 September 2017

Mutations that appear in only some of the body’s cells contribute to autism in about 4 percent of people with the condition.

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Black and white portraits of Rebecca Lim and Erin Barnard.

Journal club: Mosaic mutations in autism

 /  9 October 2017

Watch the complete replay of this journal club, which featured two papers on mosaic mutations in autism.

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August 2017
Week of JulyJul
31st
2017

Autism unsurprised; diagnostic camouflage; Neanderthal legacy and more

by  /  4 August 2017

People with autism aren’t easily surprised, the social camouflage some girls and women with autism use may preclude diagnosis, and autism-related genes are rooted deep in human ancestry.

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July 2017

Large study shines spotlight on ‘mosaic’ mutations in autism

by  /  19 July 2017

About 8 percent of non-inherited mutations in people with autism occur in only some of the body’s cells, according to a study of 20,000 people.

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June 2017
Illustration showing large group of people in a shape suggestive of a GWAS visual, connected to a pertri dish. The image is suggestive of large scale genetics research.

From 0 to 60 in 10 years

by  /  27 June 2017

After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.

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Whole genomes may hold clues to autism, but patience is key

by ,  /  27 June 2017

We finally have access to whole-genome sequences from people with autism. But before we can properly interpret these data, we need to know what we’re looking for.

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May 2017

New tools strengthen old link between autism, mitochondria

by  /  30 May 2017

Variants of some mitochondrial genes may contribute to autism — in some cases, by teaming up with genes in the nucleus.

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Complex gene interactions in autism offer avenues for treatment

by  /  23 May 2017

Teasing out how genes interact can offer clues to autism’s causes and point to treatment targets.

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What makes a gene an autism candidate? Not everyone agrees

by  /  11 May 2017

Whether a gene should be considered a ‘novel candidate’ for autism depends not just on whether it’s been linked to the condition before, but on the strength of that link.

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