Tag: simplex families

February 2015
News

Some sibling sets arrive at autism with different mutations

by  /  5 February 2015

Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.

6 Comments
December 2014
Features / Special Reports / 2014 Year in review

Notable papers of 2014

22 December 2014

It’s no easy feat to whittle down the list of the most influential autism papers to a mere 10. So please consider this but a taste of the burgeoning field, presented in chronological order and based on suggestions from many researchers.

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November 2014
News

Rare mutations linked to severity of autism symptoms

by  /  3 November 2014

Boys with autism who carry rare, spontaneous mutations have lower intelligence quotients and more severe symptoms than do those who may have inherited the disorder. The finding, published 21 October in the Proceedings of the National Academy of Sciences, hints at two classes of autism risk with varying severity.

10 Comments
October 2014
News

Massive sequencing studies reveal key autism genes

by  /  29 October 2014

Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported today in Nature.

8 Comments
News

Studies question link between head circumference, autism

by  /  16 October 2014

Having an enlarged head in early childhood is not a reliable marker of autism, according to two new studies that tracked changes in head and body size in children over time.

3 Comments
September 2014
News / Toolbox

New algorithm detects DNA insertions and deletions

by  /  10 September 2014

A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.

0 Comments
June 2014
News

Large study underscores role of gene copy number in autism

by  /  2 June 2014

People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published 1 May in the American Journal of Human Genetics.

1 Comment
April 2014
News

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.

2 Comments
March 2014
News

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.

7 Comments
February 2014
News

Clinical research: Epilepsy and autism share familial risk

by  /  21 February 2014

In families with a history of autism, the affected children are seven times more likely to also have epilepsy than their unaffected siblings, according to a study published 1 December in Molecular Autism. The results suggest that epilepsy and autism share some risk factors.

1 Comment