ASHG 2016

Recent articles

Many people harbor large mutations linked to autism

DNA deletions and duplications tied to autism crop up in people without the condition, too.

By Ann Griswold
24 October 2016 | 3 min read

Drug duo may reverse effects of Rett mutations in cells

A pair of existing drugs normalizes the appearance and activity of neurons derived from the skin of individuals with Rett syndrome.

By Ann Griswold
21 October 2016 | 3 min read

‘Synonymous’ mosaic mutations may up autism risk

A type of mutation long thought to be harmless has turned out to play an unexpected role in autism.

By Ann Griswold
20 October 2016 | 4 min read

Explore more from The Transmitter

Meet the Autism Data Science Initiative grantees

The awarded projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes in autistic youth and adults.

By Calli McMurray
3 October 2025 | 2 min read
Stack of papers.

Exclusive: The 23 studies the FDA based its expanded leucovorin label on

The studies include 46 people, mostly toddlers, who have cerebral folate deficiency due to variants in a folate transporter.

By Claudia López Lloreda
2 October 2025 | 6 min read
Hand holding a rubber stamp above a stack of papers.

Autism researchers ‘pleasantly surprised’ by list of NIH data project grantees, despite initial concerns

An atypical funding mechanism, truncated application timeline and opaque review process had generated concern over the quality of projects that would be selected for the Autism Data Science Initiative.

By Calli McMurray
2 October 2025 | 10 min read

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