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

Photograph of the BRIDGE team and students visiting a laboratory.

Sharing Africa’s brain data: Q&A with Amadi Ihunwo

These data are “virtually mandatory” to advance neuroscience, says Ihunwo, a co-investigator of the Brain Research International Data Governance & Exchange (BRIDGE) initiative, which seeks to develop a global framework for sharing, using and protecting neuroscience data.

By Lauren Schenkman
20 May 2025 | 6 min read
Research image of neurite overgrowth in cells grown from people with autism-linked PPP2R5D variants.

Cortical structures in infants linked to future language skills; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 19 May.

By Jill Adams
20 May 2025 | 2 min read
Digitally distorted building blocks.

The BabyLM Challenge: In search of more efficient learning algorithms, researchers look to infants

A competition that trains language models on relatively small datasets of words, closer in size to what a child hears up to age 13, seeks solutions to some of the major challenges of today’s large language models.

By Alona Fyshe
19 May 2025 | 7 min read