Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.
An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.
Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.
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.
Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought.
Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.
A new method enables researchers to assess the biological impact of thousands of subtle mutations.