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
‘Elusive Cures: Why Neuroscience Hasn’t Solved Brain Disorders—and How We Can Change That,’ an excerpt
In her new book, published today, neuroscientist Nicole Rust takes us on her personal quest to spell out the brain research community's "Grand Plan."
‘Elusive Cures: Why Neuroscience Hasn’t Solved Brain Disorders—and How We Can Change That,’ an excerpt
In her new book, published today, neuroscientist Nicole Rust takes us on her personal quest to spell out the brain research community's "Grand Plan."
Convergent effects of autism-linked genes in zebrafish; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 9 June.
Convergent effects of autism-linked genes in zebrafish; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 9 June.
More than two dozen papers by neural tube researcher come under scrutiny
One of the studies, published in 2021 in Science Advances, received an editorial expression of concern on 21 May, after the journal learned that an institutional review of alleged image problems is underway.
More than two dozen papers by neural tube researcher come under scrutiny
One of the studies, published in 2021 in Science Advances, received an editorial expression of concern on 21 May, after the journal learned that an institutional review of alleged image problems is underway.