ASHG 2017

Recent articles

Boy staring at fidget spinner

Risk genes for autism overlap with those for attention deficit

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

By Nicholette Zeliadt
25 November 2019 | 4 min read
Modifier genes may enhance or diminish the effects of a mutation linked to autism.

Second ‘hits’ may explain autism mutations’ varied effects

People who have a mutation linked to autism plus a second genetic glitch tend to have more severe symptoms than those with the mutation alone.

By Nicholette Zeliadt
5 October 2018 | 3 min read

Yeast assay illuminates effects of mutations in top autism gene

Mutations in the gene PTEN that are tied to autism may be less harmful than those linked to a syndrome characterized by benign tumors.

By Nicholette Zeliadt
1 June 2018 | 3 min read
Medical practitioner marking blood sample.

Mosaic mutations in sperm point to increased autism risk

More than 5 percent of mutations thought to have arisen spontaneously in a child with autism may in fact be inherited.

By Nicholette Zeliadt
23 October 2017 | 4 min read
Mother and daughter practicing writing.

Rare autism mutations linked to low intelligence

People with autism who have rare, damaging mutations tend to have low scores on intelligence tests.

By Nicholette Zeliadt
20 October 2017 | 3 min read

Explore more from The Transmitter

Research image showing resting-state functional connectivity in the human red nucleus.

‘Ancient’ brainstem structure evolved beyond basic motor control

The human red nucleus may also help coordinate action, reward and motivated behavior, a new study suggests.

By Sydney Wyatt
16 May 2025 | 5 min read
Seattle skyline.

Reporter’s notebook: Highlights from INSAR 2025

The annual meeting brought autism researchers, advocates and clinicians to Seattle to discuss the latest research, including attempts to define subgroups, a potential new CHD8 macaque model and life expectancy gaps.

By Daisy Yuhas
15 May 2025 | 5 min read
A researcher stands at the top of a staircase that leads to nowhere.

NIDA shutters diversity fellowship program, axes active awards

It’s unclear if the cancellation at the U.S. National Institute on Drug Abuse extends to the fellowships awarded by other institutes within the National Institutes of Health.

By Calli McMurray
14 May 2025 | 4 min read