ASHG 2017

Recent articles

Boy staring at fidget spinner

Risk genes for autism overlap with those for attention deficit

People with attention deficit hyperactivity disorder may carry certain rare, harmful mutations in many of the same genes as people with autism.

By Nicholette Zeliadt
25 November 2019 | 4 min read
Modifier genes may enhance or diminish the effects of a mutation linked to autism.

Second ‘hits’ may explain autism mutations’ varied effects

People who have a mutation linked to autism plus a second genetic glitch tend to have more severe symptoms than those with the mutation alone.

By Nicholette Zeliadt
5 October 2018 | 3 min read

Yeast assay illuminates effects of mutations in top autism gene

Mutations in the gene PTEN that are tied to autism may be less harmful than those linked to a syndrome characterized by benign tumors.

By Nicholette Zeliadt
1 June 2018 | 3 min read
Medical practitioner marking blood sample.

Mosaic mutations in sperm point to increased autism risk

More than 5 percent of mutations thought to have arisen spontaneously in a child with autism may in fact be inherited.

By Nicholette Zeliadt
23 October 2017 | 4 min read
Mother and daughter practicing writing.

Rare autism mutations linked to low intelligence

People with autism who have rare, damaging mutations tend to have low scores on intelligence tests.

By Nicholette Zeliadt
20 October 2017 | 3 min read

Explore more from The Transmitter

Illustration of children looking at a gigantic set of building blocks, some of which display genetic sequences on their surfaces.

Autism is more heritable in boys than in girls

If boys have greater inherited liability for autism, the female protective effect may not fully explain the sex difference in prevalence.

Illustration of a brain.

This paper changed my life – ‘Response of hippocampal synapses to natural stimulation patterns,’ by Dobrunz and Stevens

The work demonstrated how to effectively combine controlled in-vitro experiments and the messiness of natural brain patterns.

By Robert Froemke
17 September 2024 | 4 min read
Research image of microglia.

CDKL5 gene; cerebrospinal fluid; drug combo for fragile X syndrome

Here is a roundup of autism-related news and research spotted around the web for the week of 16 September.

By Jill Adams
17 September 2024 | 2 min read