ASHG 2018

Recent articles

Microscopic view of spermatozoa

Some autism mutations go undetected, new study suggests

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

By Jessica Wright
5 December 2018 | 5 min read

Massive sequencing project identifies new genetic syndromes

The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

By Jessica Wright
23 October 2018 | 3 min read
Brain cells under magnification glow red, purple and blue.

Mini-brains may pin down key genes in large mutations

Clusters of brain cells — so-called 'mini-brains' grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.

By Jessica Wright
22 October 2018 | 3 min read
A digital drawing shows two groups of people forming large arrows, see from above.

Mutation types tied to autism converge on shared set of genes

Genes linked to autism in sequencing studies tend be located in long stretches of DNA that are duplicated or missing in some people with developmental conditions.

By Jessica Wright
18 October 2018 | 3 min read
A boy toddler learns to walk with an adult holding his hands.

Some ‘autism genes’ show stronger ties to related conditions

The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.

By Jessica Wright
17 October 2018 | 3 min read

Explore more from The Transmitter

A repeating pattern of orange butterflies against a blue background.

‘Huge influx’ of neuroscientists migrates to Bluesky

Daily neuroscience-related posts on the social-media platform this week have increased more than 400 percent, on average, compared with October.

By Calli McMurray
21 November 2024 | 5 min read
Woman in a clinician's office.

Autism prevalence increasing in children, adults, according to electronic medical records

The uptick from 2011 to 2022 in the United States underscores a need for more services and research, the investigators say.

By Shaena Montanari
21 November 2024 | 2 min read
Research image of mouse cells.

Immune cell interlopers breach—and repair—brain barrier in mice

The choroid plexus, the protective network of blood vessels and epithelial cells that line the brain’s ventricles, recruits neutrophils and macrophages during inflammation, a new study shows.

By Claudia López Lloreda
20 November 2024 | 6 min read