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

Brain organoid.

What is the future of organoid and assembloid regulation?

Four experts weigh in on how to establish ethical guardrails for research on the 3D neuron clusters as these models become ever more complex.

By Claudia López Lloreda
10 December 2025 | 7 min read
Research image of variants of the ATPase subunit PSMC5/RPT6.

Insights on suicidality and autism; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 8 December.

By Jill Adams
9 December 2025 | 2 min read
A stack of papers topped by many paper shreddings against a red background.

Exclusive: Springer Nature retracts, removes nearly 40 publications that trained neural networks on ‘bonkers’ dataset

The dataset contains images of children’s faces downloaded from websites about autism, which sparked concerns at Springer Nature about consent and reliability.

By Calli McMurray
8 December 2025 | 5 min read

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