Evidence map›Paper›PMID 42145590›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder.

F Kyle Satterstrom, Kiana Jodeiry, Behrang Mahjani, Gad Hatem, Se Jun Park, Lambertus Klei, Jack M Fu, Emilie M Wigdor, Autism Sequencing Consortium, Catalina Betancur and 5 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

F Kyle SatterstromStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA.
Kiana JodeiryDepartment of Psychology, Emory University, Atlanta, Georgia, 30322, USA.
Behrang MahjaniSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, 10029, USA.
Gad HatemCenter of Computational and Quantitative Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, USA.
Se Jun ParkCenter of Computational and Quantitative Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, USA.
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, 15213, PA, USA.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA.
Emilie M WigdorDepartment of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK.
Autism Sequencing Consortium
Catalina BetancurInstitut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.
Mark J DalyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA.ORCID 0000-0002-0949-8752
Kathryn RoederDepartment of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, 15213, PA, USA.
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, 15213, PA, USA.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, 10029, USA.ORCID 0000-0001-8898-8313
David J CutlerCenter of Computational and Quantitative Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, USA.

Funding

Quantitative Genetic Models for Exploring Missing Heritability of Alzheimer's DiseaseRF1AG071170 · NIA · EMORY UNIVERSITY · PI CUTLER, DAVID JOSEPH, EPSTEIN, MICHAEL PHILIP · 2020 to 2020
$2.9M
1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M
1/4-The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomesU01MH100233 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2013 to 2015
$2.5M
1/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129724 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Joseph D. Buxbaum · 2022 to 2026
$2.0M
2/4 The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129722 · NIMH · BROAD INSTITUTE, INC. · PI Mark Joseph Daly · 2022 to 2026
$2.0M
3/4 The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129725 · NIMH · CARNEGIE-MELLON UNIVERSITY · PI KATHRYN M ROEDER · 2022 to 2026
$1.9M
NIA NIH HHS RF1 AG071170NIMH NIH HHS R01 MH129722NIMH NIH HHS R01 MH129724NIMH NIH HHS R01 MH129725NIMH NIH HHS U01 MH100233NIMH NIH HHS U01 MH111661
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is estimated to be up to four times as common in males as in females, yet the causes of this prevalence difference are not well established. One possible driver is genetic variation on the X chromosome, as it contains genes capable of contributing to ASD (

Indexed as

Autism Spectrum DisorderRare VariantsSex-Specific PrevalenceX Chromosome

Identifiers

PMID42145590
PMCPMC13174724

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.