Simons Simplex Collection

Recent articles

Gerry Fischbach at a podium.

Remembering Gerry Fischbach, ‘orchestra conductor’ who brought scientists together

Fischbach, who died 25 October, elucidated the dynamic changes in neuromuscular junctions. Beyond the lab, he shaped careers, academic departments and scientific societies.

By Claudia López Lloreda
29 October 2026 | 8 min read
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

Explore more from The Transmitter

Clockwise: lab mouse, zebrafish, octopus, rat pushing a cube, nematodes, fruit fly.

The term ‘model organism’ should be reserved for biological systems

By referring to artificial neural networks as model organisms, we run the risk of distorting funding priorities and disregard the explanatory power of a shared evolutionary history across biological organisms.

By Marc Coutanche
13 November 2026 | 6 min read

New phase of BRAIN Initiative spawns basal ganglia ‘parts list’

With a standardized cell naming system and infrastructure for data collection and analysis, the basal ganglia project sets the stage for a whole-brain primate atlas.

By Claudia López Lloreda
12 November 2026 | 1 min watch
Research image showing genes containing microexons in mice.

Machine-learning model spots autism-linked variants that scramble splicing

The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.

By Giorgia Guglielmi
12 November 2026 | 4 min read