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

Cara Pugliese.

Autism program chief among National Institutes of Health layoffs

The termination is one of more than 1,000 employee cuts at the U.S. agency this week.

By Rachel Zamzow
21 February 2025 | 3 min read
Illustration of columns of text with eyes peeking out from behind the central column to look at a bright blue spot.

This paper changed my Life: Bill Newsome reflects on a quadrilogy of classic visual perception studies

The 1970s papers from Goldberg and Wurtz made ambitious mechanistic studies of higher brain functions seem feasible.

By Bill Newsome
21 February 2025 | 6 min read
Interconnected lines form a world map.

Science must step away from nationally managed infrastructure

Scientific data and independence are at risk. We need to work with community-driven services and university libraries to create new multi-country organizations that are resilient to political interference.

By Dan Goodman
20 February 2025 | 7 min read