Simons Simplex Collection

Recent articles

A woman plays with a child on the floor.

Four autism subtypes map onto distinct genes, traits

An analysis of more than 5,000 autistic children and their siblings underscores the idea that autism can be understood as multiple conditions with distinct trajectories.

By Giorgia Guglielmi
17 July 2025 | 5 min read
Illustration of hands sewing red and white threads in a DNA-like pattern into a blue-gray fabric.

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.

By Holly Barker
3 October 2024 | 5 min read

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.

By Giorgia Guglielmi
28 March 2024 | 4 min read
Blurry photograph of a crowd of people on a street.

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.

By Charles Q. Choi
13 July 2023 | 4 min read
Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.

Null and Noteworthy: Modified MRI; father findings

This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.

By Emily Harris
22 June 2023 | 4 min read
Illustration of an X chromosome against a black background.

X-chromosome variants help explain autism’s sex bias

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

By Charles Q. Choi
24 October 2022 | 4 min read
Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

By Chloe Williams
18 August 2022 | 7 min read

Mutations disrupting chromatin interactions contribute to autism

The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.

By Giorgia Guglielmi
8 August 2022 | 5 min read
Figure in space heads towards unknown, dark area.

The final frontier: Autism geneticists take on the noncoding genome

The vast stretches of DNA that don't code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won't be easy.

By Laura Dattaro
12 July 2022 | 7 min read
Illustration of two figures in a field of black circles representing genetic risks. The circles surround the figure on the left and stay farther away from the figure on the right.

Common inherited variants tied to autism show sex bias in families

Siblings of autistic females are more likely to have autism than siblings of autistic males are, and mothers of autistic children carry more common, autism-linked variants than fathers do.

By Chloe Williams
23 June 2022 | 6 min read

Explore more from The Transmitter

Does AI understand what it produces? Henk de Regt explores how we might assess understanding in machines and humans

Building on his philosophy of how scientists understand what they work on, de Regt is extending his approach to test understanding in machines.

By Paul Middlebrooks
19 November 2025 | 1 min read
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Role of maternal factors in autism; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 17 November.

By Jill Adams
18 November 2025 | 2 min read
complex stack of rectangular prisms.

Neurophysiology data-sharing system faces funding cliff

After the primary grant supporting Neurodata Without Borders ends in March 2026, the platform may no longer be maintained or kept up to date.

By Lauren Schneider
17 November 2025 | 5 min read

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