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

Photograph of the BRIDGE team and students visiting a laboratory.

Sharing Africa’s brain data: Q&A with Amadi Ihunwo

These data are “virtually mandatory” to advance neuroscience, says Ihunwo, a co-investigator of the Brain Research International Data Governance & Exchange (BRIDGE) initiative, which seeks to develop a global framework for sharing, using and protecting neuroscience data.

By Lauren Schenkman
20 May 2025 | 6 min read
Research image of neurite overgrowth in cells grown from people with autism-linked PPP2R5D variants.

Cortical structures in infants linked to future language skills; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 19 May.

By Jill Adams
20 May 2025 | 2 min read
Digitally distorted building blocks.

The BabyLM Challenge: In search of more efficient learning algorithms, researchers look to infants

A competition that trains language models on relatively small datasets of words, closer in size to what a child hears up to age 13, seeks solutions to some of the major challenges of today’s large language models.

By Alona Fyshe
19 May 2025 | 7 min read