Evidence map›Paper›PMID 34930847›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2021

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca

Matthew Halvorsen, Laura Gould, Xiaohan Wang, Gariel Grant, Raquel Moya, Rachel Rabin, Michael J Ackerman, David J Tester, Peter T Lin, John G Pappas and 4 more

Open access · hybridAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
4.7field-weighted citation impact, top 4% 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

29 citing papers in PubMed, 37 citations in OpenAlex.

  1. Circular RNAs in ferroptosis regulation and tumor progression of gynecological and breast cancers: molecular mechanisms and therapeutic potential.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
  2. Review
  3. Sudden unexpected deaths in children: distinct entities.European journal of pediatrics · 2026
    Review
  4. Article
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  10. 3D bioprinting innovations: a new frontier in breast cancer research.Medical oncology (Northwood, London, England) · 2025
    Review
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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

14 authors at 5 institutions in 1 country.

Matthew HalvorsenDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599.
Laura GouldComprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY 10016.
Xiaohan WangNeuroscience Institute, New York University Grossman School of Medicine, New York University, New York, NY 10016.
Gariel GrantNeuroscience Institute, New York University Grossman School of Medicine, New York University, New York, NY 10016.
Raquel MoyaInstitute for Systems Genetics, New York University Grossman School of Medicine, New York, NY 10016.
Rachel RabinDepartment of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016.
Michael J AckermanDivision of Heart Rhythm Services, Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55902.
David J TesterDivision of Heart Rhythm Services, Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55902.
Peter T LinDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902.
John G PappasComprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY 10016.
Matthew T MauranoInstitute for Systems Genetics, New York University Grossman School of Medicine, New York, NY 10016.
David B GoldsteinInstitute for Genomic Medicine at Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032.
Richard W TsienNeuroscience Institute, New York University Grossman School of Medicine, New York University, New York, NY 10016; richard.tsien@nyulangone.org Orrin.Devinsky@nyulangone.org.ORCID 0000-0001-7428-9722
Orrin DevinskyComprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY 10016; richard.tsien@nyulangone.org Orrin.Devinsky@nyulangone.org.ORCID 0000-0003-0044-4632
New York University · USMayo Clinic · USColumbia University · USMayo Clinic in Arizona · USUniversity of North Carolina at Chapel Hill · US

Funding

U19 Supplement 2023-FroemkeU19NS107616 · NINDS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI GYORGY BUZSAKI · 2018 to 2026
$36.4M
Neuronal Adaptation and Plasticity after Chronic DisuseR01MH071739 · NIMH · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI TSIEN, RICHARD W · 2015 to 2024
$5.5M
Synaptic Adaptation and Plasticity After Chronic DisuseR37MH071739 · NIMH · STANFORD UNIVERSITY · PI TSIEN, RICHARD W · 2004 to 2013
$3.8M
Calcium Channels, Calmodulin and Nuclear CREB SignalingR01DA040484 · NIDA · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI TSIEN, RICHARD W · 2015 to 2019
$2.0M
NIDA NIH HHS R01 DA040484NIMH NIH HHS R01 MH071739NIMH NIH HHS R37 MH071739NINDS NIH HHS U19 NS107616
6 · The paper itself

Abstract

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 "trios" (decedent child, living parents) was used to test for excessive de novo mutations (DNMs) in genes involved in cardiac arrhythmias, epilepsy, and other disorders. Among decedents, nonsynonymous DNMs were enriched in genes associated with cardiac and seizure disorders relative to controls (odds ratio = 9.76,

Indexed as

Death, SuddenArrhythmias, CardiacCalcium SignalingChild, PreschoolEpilepsyExome SequencingFemaleHumansInfantMaleMutationcalcium signalingcardiac arrhythmiageneticsseizure disordersudden death in children

Identifiers

PMID34930847
PMCPMC8719874
OpenAlexW4200478509

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.