Simons Simplex Collection

Recent articles

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
A street crowded with pedestrian traffic

Spectrum of variants contribute differently to autism traits

Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.

By Laura Dattaro
3 June 2022 | 5 min read

Explore more from The Transmitter

People help each other climb up a supersized human brain.

As federal funders desert mentorship programs for marginalized students, trainee-led initiatives fill the gap

Grassroots organizations, led by graduate students and postdoctoral researchers, are stepping up to provide neuroscience career training and guidance for students from marginalized backgrounds—and they need your support.

By Christian Cazares, Maribel Patiño
11 April 2025 | 5 min read
Research image of two mouse brain slices.

Split gene therapy delivers promise in mice modeling Dravet syndrome

The new approach overcomes viral packaging limitations by delivering SCN1A piecemeal and stitching it together in target cells.

By Holly Barker
10 April 2025 | 5 min read
Screenshot of NeMO website with banner reading This repository is under review for potential modification in compliance with Administration directives.

U.S. human data repositories ‘under review’ for gender identity descriptors

Researchers associated with the repositories received an email from the U.S. National Institutes of Health in March noting that they must comply with a 20 January executive order from President Trump that recognizes only two sexes: male and female.

By Angie Voyles Askham
9 April 2025 | 4 min read