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

Is our intelligence rooted in how living organisms are organized?

Kathryn Nave explains how a concept called constraint closure may be fundamental to understanding brains, minds and cognition.

By Paul Middlebrooks
15 July 2026 | 1 min read
Soha Ashrafi photo collage art.

Making an impact through academic administration

As executive director of research at Harvard Medical School’s Department of Neurobiology, Soha Ashrafi supports more than 300 scientists, students and staff members.

By Katie Moisse
15 July 2026 | 7 min read
Illustration of birdsong, bird brain, and DNA.

This paper changed my life: Embracing an early model for naturalistic neuroscience

A 1992 PNAS paper showed how birdsong upregulates the expression of an immediate early gene in bird forebrains. The work revealed to Ribeiro the importance of studying molecular responses in naturalistic contexts.

By Sidarta Ribeiro
14 July 2026 | 4 min read