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

Illustration of a person standing in a crumbling room with papers and strings on the wall, a fallen chair, and a lamp.

What to do when traditional mechanistic approaches no longer work

Many complex behaviors have stubbornly resisted mechanistic explanations. Deciphering them will require new approaches—and perhaps a new concept of “understanding.”

By Bence Ölveczky
19 October 2026 | 8 min read
Image showing duplicated data.

University probe leads to retraction of four neural tube studies

The University of Maryland conducted an internal investigation that identified image duplications and other data integrity issues in the studies, according to the retraction notices.

By Claudia López Lloreda
16 October 2026 | 6 min read
Illustration of five purple rectangles arranged three-dimensionally like folders on a black background with a pattern of white dots and white plus signs.

Highly cited autism paper earns expression of concern over data duplications

The notice, published in Nature last week, also addressed an image duplication identified by a prominent research-integrity sleuth.

By Madeline Shaw
16 October 2026 | 4 min read