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

Researcher holds a mouse perched on a glass cylinder.

NIH proposal sows concerns over future of animal research, unnecessary costs

The new NIH policy calls for greater incorporation of new approach methodologies in all future Notices of Funding Opportunities related to animal model systems.

By Claudia López Lloreda
15 July 2025 | 5 min read

Altered transcription in dup15q syndrome; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 14 July.

By Jill Adams
15 July 2025 | 2 min read
A group of researchers reading while institutions crumble in the background, and giant mice appear on the horizon.

Fear and loathing on study section: Reviewing grant proposals while the system is burning

As grants are canceled, delayed and subject to general uncertainty, participating in study sections can feel futile. But it’s more important than ever.

By John Tuthill
14 July 2025 | 8 min read