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Spectrum: Autism Research News

Tag: de novo mutations

July 2023
Illustration of half of a brain on the left and half of a heart on the right

Change of heart and mind: Autism’s ties to cardiac defects

by  /  21 July 2023

Children with congenital heart disease have an increased likelihood of autism. Why?

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Blurry photograph of a crowd of people on a street.

Some who lack autism diagnosis carry variants tied to the condition

by  /  13 July 2023

The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.

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A couple drinks tea at a café.

Partner selection may amplify rare variants in children

by  /  6 July 2023

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.

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May 2023
Illustration of a brain.

Cortical differences in autism vary by sex

by  /  4 May 2023

Compared with their non-autistic peers, young autistic girls have a thicker cortex that thins more quickly with age.

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April 2023
Illustration of a room with DNA sequence wallpaper and three doors leading to abstract new environments.

The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong

by  /  14 April 2023

If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.

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December 2022
An illustration of doctors examining a larger-than-life DNA strand

Whole-genome trove ties new genes, variants to autism

by  /  12 December 2022

A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.

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X chromosome against a dark background.

Common and rare autism-linked variants share functional effects

by  /  1 December 2022

Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.

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November 2022
Tuan Chao speaks about her research.

Tying PPFIA3 to autism: A quick take at SfN with Tuan Chao and Maimuna Paul

by  /  15 November 2022

Work in fruit flies has helped Paul decode a neurodevelopmental syndrome in children caused by rare de novo variants in the gene PPFIA3.

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Three scans of zebrafish brains.

Zebrafish point to new gene involved in brain overgrowth, autism

by  /  1 November 2022

The gene, YTHDF2, has not previously been linked to autism.

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October 2022
Illustration of an X chromosome against a black background.

X-chromosome variants help explain autism’s sex bias

by  /  24 October 2022

The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.

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