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
Frameshift: Raphe Bernier followed his heart out of academia, then made his way back again
After a clinical research career, an interlude at Apple and four months in early retirement, Raphe Bernier found joy in teaching.
Frameshift: Raphe Bernier followed his heart out of academia, then made his way back again
After a clinical research career, an interlude at Apple and four months in early retirement, Raphe Bernier found joy in teaching.
Organoid study reveals shared brain pathways across autism-linked variants
The genetic variants initially affect brain development in unique ways, but over time they converge on common molecular pathways.
Organoid study reveals shared brain pathways across autism-linked variants
The genetic variants initially affect brain development in unique ways, but over time they converge on common molecular pathways.
Single gene sways caregiving circuits, behavior in male mice
Brain levels of the agouti gene determine whether African striped mice are doting fathers—or infanticidal ones.
Single gene sways caregiving circuits, behavior in male mice
Brain levels of the agouti gene determine whether African striped mice are doting fathers—or infanticidal ones.