Evidence map›Paper›PMID 32317787›Full record

ReviewNature reviews. Genetics2020

A framework for an evidence-based gene list relevant to autism spectrum disorder.

Christian P Schaaf, Catalina Betancur, Ryan K C Yuen, Jeremy R Parr, David H Skuse, Louise Gallagher, Raphael A Bernier, Janet A Buchanan, Joseph D Buxbaum, Chun-An Chen and 15 more

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
80citing papers in PubMed, 1 pooled it
–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

80 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  19. Sociability: Comparing the Effect of Chlorpyrifos with Valproic Acid.Journal of autism and developmental disorders · 2025
    Article
  20. Review of autism spectrum disorder databases for the identification of candidate genes.Database : the journal of biological databases and curation · 2025
    Review

20 more citing papers are in PubMed but not listed here.

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

25 authors.

Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-2148-7490
Catalina BetancurNeuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.ORCID http://orcid.org/0000-0002-3327-4804
Ryan K C YuenThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-7273-4968
Jeremy R ParrPopulation Health Science Institute, Sir James Spence Institute, Newcastle University, Royal Victoria Infirmary, Newcastle, UK.
David H SkuseInstitute of Child Health, University College London, London, UK.ORCID http://orcid.org/0000-0002-7891-5732
Louise GallagherDepartment of Psychiatry & Neuropsychiatric Genetics Research Group, School of Medicine, The Trinity Centre for Health Sciences, Trinity College Dublin, Dublin, Ireland.ORCID http://orcid.org/0000-0001-9462-2836
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Center for Child Health, Behavior, and Disabilities, Seattle, WA, USA.
Janet A BuchananThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Joseph D BuxbaumDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Chun-An ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kira A DiesTranslational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Mayada ElsabbaghMontreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.
Helen V FirthDepartment of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust & Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Thomas FrazierAutism Speaks, Cleveland, OH, USA.
Ny HoangThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Jennifer HoweThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Christian R MarshallThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Jacques L MichaudCHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
Olivia RennieThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-9441-978X
Peter SzatmariDepartment of Psychiatry, Hospital for Sick Children, Toronto, ON, Canada.
Wendy K ChungDepartment of Pediatrics (in Medicine), Columbia University Medical Center, New York, NY, USA.
Patrick F BoltonInstitute of Psychiatry, King's College London, London, UK.
Edwin H CookDepartment of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.
Stephen W SchererThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.ORCID http://orcid.org/0000-0002-8326-1999
Jacob A S VorstmanThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. jacob.vorstman@sickkids.ca.ORCID http://orcid.org/0000-0002-1677-3126

Funding

5/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119741 · NIMH · HOSPITAL FOR SICK CHLDRN (TORONTO) · PI VORSTMAN, JACOB A.S. · 2019 to 2024
$3.1M
1/2 Measuring translational dynamics and the proteome to identify potential brain biomarkers for psychiatric diseaseR01MH110920 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI LIU, CHUNYU · 2016 to 2019
$2.0M
NIMH NIH HHS R01 MH110920NIMH NIH HHS U01 MH119741
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.

Indexed as

Autism Spectrum DisorderBrainCognitionEvidence-Based MedicineGenetic Association StudiesHumansIntellectual Disability

Identifiers

PMID32317787
PMCPMC10357004

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.