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
Meet the Autism Data Science Initiative grantees
The awarded projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes in autistic youth and adults.
Meet the Autism Data Science Initiative grantees
The awarded projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes in autistic youth and adults.
Exclusive: The 23 studies the FDA based its expanded leucovorin label on
The studies include 46 people, mostly toddlers, who have cerebral folate deficiency due to variants in a folate transporter.
Exclusive: The 23 studies the FDA based its expanded leucovorin label on
The studies include 46 people, mostly toddlers, who have cerebral folate deficiency due to variants in a folate transporter.
Autism researchers ‘pleasantly surprised’ by list of NIH data project grantees, despite initial concerns
An atypical funding mechanism, truncated application timeline and opaque review process had generated concern over the quality of projects that would be selected for the Autism Data Science Initiative.
Autism researchers ‘pleasantly surprised’ by list of NIH data project grantees, despite initial concerns
An atypical funding mechanism, truncated application timeline and opaque review process had generated concern over the quality of projects that would be selected for the Autism Data Science Initiative.