ArticleNature2020
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Open access · greenAbstract read
In one paragraph
Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
145citing papers in PubMed, 1 pooled it
28.4field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
145 citing papers in PubMed, 1 synthesis or guideline pooled it, 253 citations in OpenAlex.
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.Molecular psychiatry · 2026Article
- Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.Science advances · 2026Article
- Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism.Human genomics · 2026Article
- Linked origins but distinct roles for extreme length and sequence variation at a tandem repeat inbioRxiv : the preprint server for biology · 2026Article
- Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.Genome research · 2026Article
- N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.European journal of human genetics : EJHG · 2026Article
- Article
- New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.NPJ genomic medicine · 2026Article
- A comprehensive tandem repeat catalog of the human genome.Nature communications · 2026Article
- The role of low-complexity repeats in RNA-RNA interactions and a deep learning framework for duplex prediction.Nature communications · 2026Article
- Using the linear references from the pangenome to discover missing autism variants.Nature communications · 2026Article
- Article
- Alzheimer's disease: genetic background in the era of next-generation sequencing technologies.Brain communications · 2026Review
- Review
- Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.Cerebellum (London, England) · 2025Article
- Diverse short tandem repeat sequences influence gene regulation in human populations.Genome biology · 2025Article
- TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data.Genome biology · 2025Article
85 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
38 authors at 15 institutions in 2 countries.
Brett Trost *Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-4863-7273
Worrawat Engchuan *Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Charlotte M Nguyen *Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Bhooma Thiruvahindrapuram *Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Egor DolzhenkoIllumina, San Diego, CA, USA.
Ian BackstromGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Mila MircetaGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Bahareh A MojaradGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Yue YinGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Alona DovGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Induja ChandrakumarGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Tanya PrasolavaGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Natalie ShumGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Omar HamdanGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Giovanna PellecchiaGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-4747-3473
Jennifer L HoweGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Joseph WhitneyGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Eric W KleeDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Saurabh BahetiDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
David G AmaralMIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA, USA.
Evdokia AnagnostouHolland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Ontario, Canada.
Mayada ElsabbaghMontreal Neurological Institute and Azrieli Centre for Autism Research, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-7311-9059
Bridget A FernandezDiscipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.
Ny HoangGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
M E Suzanne LewisMedical Genetics, University of British Columbia (UBC), Vancouver, British Columbia, Canada.
Xudong LiuDepartment of Psychiatry, Queen's University, Kingston, Ontario, Canada.
Calvin SjaardaDepartment of Psychiatry, Queen's University, Kingston, Ontario, Canada.ORCID http://orcid.org/0000-0002-9787-1915
Isabel M SmithDepartment of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
Peter SzatmariDepartment of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Lonnie ZwaigenbaumDepartment of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
David GlazerVerily Life Sciences, South San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-6407-8646
Dean HartleyAutism Speaks, New York, NY, USA.
A Keith StewartCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Michael A EberleIllumina, San Diego, CA, USA.ORCID http://orcid.org/0000-0001-8965-1253
Nozomu SatoGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8906-2798
Christopher E PearsonGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Stephen W SchererGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8326-1999
Ryan K C YuenGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. ryan.yuen@sickkids.ca.ORCID http://orcid.org/0000-0001-7273-4968
Hospital for Sick Children · CAUniversity of Toronto · CAIllumina (United States) · USMayo Clinic · USQueen's University · CAAutism Speaks · USCentre for Addiction and Mental Health · CADalhousie University · CAHolland Bloorview Kids Rehabilitation Hospital · CAMayo Clinic in Florida · USMemorial University of Newfoundland · CAMontreal Neurological Institute and Hospital · CAUniversity of Alberta · CAUniversity of British Columbia · CAUniversity of California, Davis · US
Funding
Neurophenotypic Trajectories and Behavioral Outcomes in Autism Spectrum DisorderR01MH103371 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI AMARAL, DAVID G · 2015 to 2019
$3.4MNIMH NIH HHS R01 MH103371
Abstract
Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic disorders
Indexed as
GenomicsAutism Spectrum DisorderDNA Repeat ExpansionFemaleFibroblast Growth FactorsFrataxinGenetic Predisposition to DiseaseGenome, HumanHumansIntelligenceIron-Binding ProteinsMaleMyotonin-Protein KinaseNucleotide MotifsPolymorphism, GeneticTandem Repeat SequencesDMPK protein, humanfibroblast growth factor 14Fibroblast Growth FactorsFrataxinIron-Binding ProteinsMyotonin-Protein Kinase
Identifiers
What OpenQuestion holds
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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.