Tag: whole-exome sequencing

July 2018
News

Studies unveil hidden ties between epilepsy gene and autism

by  /  23 July 2018

Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.

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News

New approach predicts impact of mild mutations in autism

by  /  11 July 2018

A new method enables researchers to assess the biological impact of thousands of subtle mutations.

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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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Diagram statistics
News

Analysis of sequences pegs 99 top autism genes

by  /  10 May 2018

The number of top autism genes has risen from 65 to 99, based on an analysis of nearly 35,000 sequences. And researchers are seeing the first hints of autism risk variants in the regions between genes.

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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
Boy staring at fidget spinner
News

Risk genes for autism overlap with those for attention deficit

by  /  20 October 2017

People with attention deficit hyperactivity disorder may carry certain rare, harmful mutations in many of the same genes as people with autism.

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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.

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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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