Rare variants
Recent articles
Sequencing study spotlights tight web of genes tied to autism
The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.
Sequencing study spotlights tight web of genes tied to autism
The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.
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.
Explore more from The Transmitter
Dispute erupts over universal cortical brain-wave claim
The debate highlights opposing views on how the cortex transmits information.
Dispute erupts over universal cortical brain-wave claim
The debate highlights opposing views on how the cortex transmits information.
Waves of calcium activity dictate eye structure in flies
Synchronized signals in non-neuronal retinal cells draw the tiny compartments of a fruit fly’s compound eye into alignment during pupal development.
Waves of calcium activity dictate eye structure in flies
Synchronized signals in non-neuronal retinal cells draw the tiny compartments of a fruit fly’s compound eye into alignment during pupal development.
Among brain changes studied in autism, spotlight shifts to subcortex
The striatum and thalamus are more likely than the cerebral cortex to express autism variants or bear transcriptional changes, two unpublished studies find.
Among brain changes studied in autism, spotlight shifts to subcortex
The striatum and thalamus are more likely than the cerebral cortex to express autism variants or bear transcriptional changes, two unpublished studies find.