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

Pixelated human brain scans showing the distribution of mitochondria.

Mitochondrial ‘landscape’ shifts across human brain

Evolutionarily newer regions sport mitochondria with a higher capacity for energy production than older regions, according to the first detailed map of the organelles in a tissue slice, adding to mounting evidence that the brain features a metabolic gradient.

By Claudia López Lloreda
25 April 2025 | 6 min read
A clinician holds a clipboard while someone else sits on a couch.

Expediting clinical trials for profound autism: Q&A with Matthew State

Aligning Research to Impact Autism, a new initiative funded by the Sergey Brin Family Foundation, wants to bring basic science discoveries to the clinic faster.

By Lauren Schenkman
24 April 2025 | 8 min read
Illustration of astrocytes in a petri dish.

This paper changed my life: Shane Liddelow on two papers that upended astrocyte research

A game-changing cell culture method developed in Ben Barres’ lab completely transformed the way we study astrocytes and helped me build a career studying their reactive substates.

By Shane Liddelow
23 April 2025 | 6 min read