Evidence map›Paper›PMID 33442040›Full record

ArticleNature2021

Patterns of de novo tandem repeat mutations and their role in autism.

Ileena Mitra, Bonnie Huang, Nima Mousavi, Nichole Ma, Michael Lamkin, Richard Yanicky, Sharona Shleizer-Burko, Kirk E Lohmueller, Melissa Gymrek

Open access · greenAbstract read
In one paragraph

Article in Nature, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers.

0numbers the graph read from it
0cells of the map it votes in
130citing papers in PubMed
30.5field-weighted citation impact, top 1% of its field
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

130 citing papers in PubMed, 210 citations in OpenAlex.

  1. Article
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  9. A complete human pancreatic cancer genome.bioRxiv : the preprint server for biology · 2026
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70 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Ileena MitraBioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA, USA.
Bonnie HuangDepartment of Bioengineering, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-3820-4565
Nima MousaviDepartment of Electrical and Computer Engineering, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0003-1926-8982
Nichole MaDepartment of Medicine, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0003-4343-8689
Michael LamkinDepartment of Bioengineering, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0001-5797-1914
Richard YanickyDepartment of Medicine, University of California San Diego, La Jolla, CA, USA.
Sharona Shleizer-BurkoDepartment of Medicine, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-5112-4797
Kirk E LohmuellerDepartment of Ecology and Evolutionary Biology, University of California Los Angeles, Los Angeles, CA, USA. klohmueller@ucla.edu.ORCID http://orcid.org/0000-0002-3874-369X
Melissa GymrekDepartment of Medicine, University of California San Diego, La Jolla, CA, USA. mgymrek@ucsd.edu.ORCID http://orcid.org/0000-0002-6086-3903
University of California San Diego · USUniversity of California, Los Angeles · US

Funding

GRADUATE TRAINING PROGRAM IN BIONFORMATICST32GM008806 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET, REN, BING · 2001 to 2020
$6.2M
Refining Mendelian disease analysis via detection of clinically relevant repeat variantsR01HG010149 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna, Vikas Bansal · 2018 to 2026
$4.5M
Population genomics of the selective effects of new mutationsR35GM119856 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LOHMUELLER, KIRK · 2016 to 2025
$3.4M
Systematic identification and interpretation of repetitive variants underlying schizophreniaDP5OD024577 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA · 2017 to 2021
$1.9M
Interrogating regulatory variants by multiplexed genome editingR21HG010070 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GOREN, ALON, GYMREK, MELISSA · 2018 to 2019
$433k
NHGRI NIH HHS R01 HG010149NHGRI NIH HHS R21 HG010070NIGMS NIH HHS R35 GM119856NIGMS NIH HHS T32 GM008806NIH HHS DP5 OD024577
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by deficits in communication and social interaction and restrictive or repetitive behaviours

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAutism Spectrum DisorderBrainChildDNA Copy Number VariationsDNA Repeat ExpansionFemaleFetusGerm-Line MutationHumansLeast-Squares AnalysisMaleMiddle AgedPaternal Age

Identifiers

PMID33442040
PMCPMC7810352
OpenAlexW3119240720

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.