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

Dendritic spine images.

Targeting NMDA receptor subunit reverses fragile X traits in mice

The subunit acts as a “volume control” on signaling that shapes the density of dendritic spines, the new work suggests.

By Angie Voyles Askham
6 March 2025 | 5 min read
A pregnant woman seen in profile, sitting on the edge of a bed.

Maternal infection’s link to autism may be a mirage

Family-linked factors explain most associations between maternal illness and autism, a study of 1.1 million Danish children finds.

By Charles Q. Choi
6 March 2025 | 3 min read
Headshots of Michelle Monje and Frank Winkler.

2025 Brain Prize honors pair of cancer neuroscientists

Michelle Monje and Frank Winkler share the $1.4 million award for their discovery of synapses between brain cancer cells and neurons.

By Sydney Wyatt
5 March 2025 | 3 min read