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Tag: whole-exome sequencing

May 2018
Boy examining string in the grass
News

Autism, developmental delay can have distinct genetic origins

by  /  11 May 2018

Mutations in certain genes contribute specifically to autism, and others only to developmental delay.

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April 2018
mutations in their mitochondrial genome
News

Mounting evidence links mitochondrial DNA to autism

by  /  5 April 2018

Genetic variants that affect mitochondria, the organelles that power cells, may increase the risk of autism.

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

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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October 2017
Week of OctoberOct
2nd
2017
News / Spotted

Cannabis candidate; omega add-on; oxytocin control and more

by  /  6 October 2017

A cannabis gel may ease features of fragile X syndrome, omega fatty acids show promise for autism in two trials, and oxytocin reinforces social behaviors through the brain’s reward pathway.

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September 2017
Illustration of DNA in cross stitch pattern
News

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.

3 Comments
Black and white portraits of Rebecca Lim and Erin Barnard.
Multimedia / Webinars

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
A family holding hands and walking down the sidewalk.
News / Toolbox

Whole genomes may power search for autism risk factors

by  /  23 August 2017

Scientists this week announced the release of nearly 7,000 whole-genome sequences from a collection of families that each have one child with autism.

1 Comment
Week of JulyJul
31st
2017
News / Spotted

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
News

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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News

Massive collaboration unearths inherited risk factor for autism

by  /  17 July 2017

Autism runs in families, but the search for inherited risk factors has come up short — until now.

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