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
A brief history of precision self-scanning
When a researcher solved a logistical problem by going rogue, the idea proved remarkably infectious.
A brief history of precision self-scanning
When a researcher solved a logistical problem by going rogue, the idea proved remarkably infectious.
Sensory profiles in autism, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 19 January.
Sensory profiles in autism, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 19 January.
Frameshift: At a biotech firm, Ubadah Sabbagh embraces the expansive world outside academia
As chief of staff at Arcadia, Ubadah Sabbagh gets to do science while also pushing the boundaries of how science gets done.
Frameshift: At a biotech firm, Ubadah Sabbagh embraces the expansive world outside academia
As chief of staff at Arcadia, Ubadah Sabbagh gets to do science while also pushing the boundaries of how science gets done.