Rare variants
Recent articles
Number of autism-linked genes more than triples in new analyses
In addition to a new preprint that expands the list of genes tied to the condition, two related analyses reveal how variants in those genes contribute to genetic susceptibility.
Number of autism-linked genes more than triples in new analyses
In addition to a new preprint that expands the list of genes tied to the condition, two related analyses reveal how variants in those genes contribute to genetic susceptibility.
NeuroDev study maps previously unseen genetic variation in Africa
The project is helping to fill critical gaps in the genetic underpinnings of autism and other neurodevelopmental conditions.
NeuroDev study maps previously unseen genetic variation in Africa
The project is helping to fill critical gaps in the genetic underpinnings of autism and other neurodevelopmental conditions.
Revised statistical bar extracts less-common variants from autism genetics studies
Adjusting genetic analyses could help plug autism’s heritability gap, according to a new preprint.
Revised statistical bar extracts less-common variants from autism genetics studies
Adjusting genetic analyses could help plug autism’s heritability gap, according to a new preprint.
Common and rare variants shape distinct genetic architecture of autism in African Americans
Certain gene variants may have greater weight in determining autism likelihood for some populations, a new study shows.
Common and rare variants shape distinct genetic architecture of autism in African Americans
Certain gene variants may have greater weight in determining autism likelihood for some populations, a new study shows.
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.
Explore more from The Transmitter
The genome offers a recipe, not a blueprint, for the brain
During brain development, genes set the rules and turn the knobs; self-organization does much of the rest.
The genome offers a recipe, not a blueprint, for the brain
During brain development, genes set the rules and turn the knobs; self-organization does much of the rest.
Autism research involving monkeys contends with uphill battle
Macaques and marmosets recapitulate the condition’s core traits better than mice can, but funding uncertainty and challenges at primate centers in the United States could make this work difficult to continue.
Autism research involving monkeys contends with uphill battle
Macaques and marmosets recapitulate the condition’s core traits better than mice can, but funding uncertainty and challenges at primate centers in the United States could make this work difficult to continue.
When is self-organization a mechanism in brain development?
Retinal waves offer a powerful example of a self-organizing system that can build structure without external guidance. The field would do well to embrace such phenomena more broadly as a type of mechanistic explanation.
When is self-organization a mechanism in brain development?
Retinal waves offer a powerful example of a self-organizing system that can build structure without external guidance. The field would do well to embrace such phenomena more broadly as a type of mechanistic explanation.