Rare variants
Recent articles
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.
Many autism-linked proteins influence hair-like cilia on human brain cells
The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.
Many autism-linked proteins influence hair-like cilia on human brain cells
The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.
Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.
Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
Genome structure could be key factor in some forms of autism
Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.
Genome structure could be key factor in some forms of autism
Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.
Head size parts autism into two major subtypes
An imbalance in the number of excitatory neurons in early brain development may account for the difference.
Head size parts autism into two major subtypes
An imbalance in the number of excitatory neurons in early brain development may account for the difference.
Some who lack autism diagnosis carry variants tied to the condition
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
Some who lack autism diagnosis carry variants tied to the condition
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Explore more from The Transmitter
Autism program chief among National Institutes of Health layoffs
The termination is one of more than 1,000 employee cuts at the U.S. agency this week.
Autism program chief among National Institutes of Health layoffs
The termination is one of more than 1,000 employee cuts at the U.S. agency this week.
This paper changed my Life: Bill Newsome reflects on a quadrilogy of classic visual perception studies
The 1970s papers from Goldberg and Wurtz made ambitious mechanistic studies of higher brain functions seem feasible.
This paper changed my Life: Bill Newsome reflects on a quadrilogy of classic visual perception studies
The 1970s papers from Goldberg and Wurtz made ambitious mechanistic studies of higher brain functions seem feasible.
Science must step away from nationally managed infrastructure
Scientific data and independence are at risk. We need to work with community-driven services and university libraries to create new multi-country organizations that are resilient to political interference.
Science must step away from nationally managed infrastructure
Scientific data and independence are at risk. We need to work with community-driven services and university libraries to create new multi-country organizations that are resilient to political interference.