ASHG 2018
Recent articles
Some autism mutations go undetected, new study suggests
Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

Some autism mutations go undetected, new study suggests
Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.
Massive sequencing project identifies new genetic syndromes
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

Massive sequencing project identifies new genetic syndromes
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.
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.

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.
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.

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.
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.

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.
Explore more from The Transmitter
Emotion research has a communication conundrum
In 2025, the words we use to describe emotions matter, but their definitions are controversial. Here, I unpack the different positions in this space and the rationales behind them—and I invite 13 experts to chime in.

Emotion research has a communication conundrum
In 2025, the words we use to describe emotions matter, but their definitions are controversial. Here, I unpack the different positions in this space and the rationales behind them—and I invite 13 experts to chime in.
Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.

Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.
Everything everywhere all at once: Decision-making signals engage entire brain
The findings, gleaned from the most comprehensive map yet of brain activity during decision-making in mice, show that the process is even more distributed than previously thought.

Everything everywhere all at once: Decision-making signals engage entire brain
The findings, gleaned from the most comprehensive map yet of brain activity during decision-making in mice, show that the process is even more distributed than previously thought.