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Spectrum: Autism Research News

Tag: copy number variation

March 2015

Stunted squeaks signal social deficits in autism model

by  /  5 March 2015

Male mice with a genetic variant linked to autism vocalize less in social situations than controls do during encounters with female mice. The findings help to characterize the effects of variants in the 16p11.2 chromosomal region.

February 2015

Gene networks offer entry point to unraveling autism

by  /  26 February 2015

By mapping the connections between autism genes, researchers are finding clues to the disorder’s origins. The key, they say, is to begin without bias.


Maternal infection exacerbates genes’ effect on autism

by  /  23 February 2015

Children with too many or too few copies of certain genes are more likely to have autism, as are children born to women who battled a severe infection while pregnant. These seemingly disparate risk factors may work together to worsen autism symptoms.


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.

January 2015

New database matches mutations with potential effects

by  /  28 January 2015

A new tool helps predict whether large DNA duplications and deletions, common among people with autism, are harmful or benign.

December 2014

Notable papers of 2014

by  /  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.

November 2014

New tool lays out links between genes, mice, behavior

by  /  17 November 2014

A new database bridges the gap between candidate genes identified by sequencing studies and mouse models that can help reveal the genes’ role in various disorders. Researchers presented the tool today at the 2014 Society for Neuroscience annual meeting in Washington, D.C.

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Some autism risk arose during human evolution

by  /  11 November 2014

Evolution may have made people susceptible to certain genetic variations that can lead to autism, suggest two intriguing new studies.


Rising star: Stephan Sanders, accidental geneticist

by  /  6 November 2014

Stephan Sanders has quickly climbed the ranks in autism research. At 35, he’s already credited with bringing a measure of clarity to autism genetics. And that’s just one feat in a long and accomplished resume.

October 2014

Autism-linked deletion sparks symptoms via many genes

by  /  23 October 2014

Deletion or duplication of 16p11.2, a chromosomal region linked to autism, may trigger symptoms via the interactions of genes both within and outside the region at a key point in development. Researchers presented these preliminary results Sunday at the 2014 American Society of Human Genetics Annual Meeting in San Diego.