Evidence map›Paper›PMID 29431102›Full record

ArticleJournal of the American Heart Association2018

Pediatric Dilated Cardiomyopathy-Associated

Marites T Woon, Pamela A Long, Louise Reilly, Jared M Evans, Alexis M Keefe, Martin R Lea, Carl J Beglinger, Ravi C Balijepalli, Youngsook Lee, Timothy M Olson and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of the American Heart Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.5field-weighted citation impact, top 16% 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

12 citing papers in PubMed, 18 citations in OpenAlex.

  1. Probing the CabioRxiv : the preprint server for biology · 2025
    Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022
    Review
  8. Article
  9. Review
  10. Exploring the dark genome: implications for precision medicine.Mammalian genome : official journal of the International Mammalian Genome Society · 2019
    Review
  11. Article
  12. Article
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

11 authors at 4 institutions in 1 country.

Marites T WoonCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI.
Pamela A LongMayo Graduate School, Molecular Pharmacology and Experimental Therapeutics Track, Mayo Clinic, Rochester, MN.
Louise ReillyCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI.
Jared M EvansDivision of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN.
Alexis M KeefeCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI.
Martin R LeaCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI.
Carl J BeglingerCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI.
Ravi C BalijepalliCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI.
Youngsook LeeDepartment of Cell and Regenerative Biology, University of Wisconsin-Madison, Madison, WI.
Timothy M OlsonDivision of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN tjk@medicine.wisc.edu olson.timothy@mayo.edu.
Timothy J KampCellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI tjk@medicine.wisc.edu olson.timothy@mayo.edu.
University of Wisconsin–Madison · USMayo Clinic in Arizona · USMayo Clinic in Florida · USWinnMed · US

Funding

Training Program In Molecular AND Cellular PharmacologyT32GM008688 · NIGMS · UNIVERSITY OF WISCONSIN-MADISON · PI AUDHYA, ANJON · 1998 to 2020
$6.0M
Mapping Novel Disease Genes for Dilated CardiomyopathyR01HL071225 · NHLBI · MAYO CLINIC ROCHESTER · PI OLSON, TIMOTHY MARK · 2002 to 2015
$3.6M
Caveolae and L-type Calcium Channels in CardiomyocytesR01HL078878 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI BALIJEPALLI, RAVI CHANDRA, KAMP, TIMOTHY J. · 2007 to 2016
$3.1M
Predoctoral Training Program in Molecular PharmacologyT32GM072474 · NIGMS · MAYO CLINIC ROCHESTER · PI KARNITZ, LARRY M · 2005 to 2020
$2.4M
NHLBI NIH HHS R01 HL071225NHLBI NIH HHS R01 HL078878NIGMS NIH HHS T32 GM008688NIGMS NIH HHS T32 GM072474
6 · The paper itself

Abstract

backgroundGenetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine-rich repeat-containing 10) is a cardiac-specific protein of unknown function. Heterozygous mutations in METHODS AND

resultsWhole-exome sequencing was carried out on a patient who presented at 6 weeks of age with DCM and her unaffected parents, filtering for rare, deleterious, recessive, and de novo variants. Whole-exome sequencing followed by trio-based filtering identified a homozygous recessive variant in

conclusionsExamination of a patient with DCM revealed homozygosity for a previously unreported

Indexed as

MutationAnimalsCalcium Channels, L-TypeCalcium SignalingCardiomyopathy, DilatedDNA Mutational AnalysisExome SequencingFemaleGenetic Predisposition to DiseaseHEK293 CellsHomozygoteHumansInfantIon Channel GatingMembrane PotentialsMice, Inbred C57BLCalcium Channels, L-Typeheart-restricted leucine-rich repeat protein, mouseLRRC10 protein, humanMicrofilament ProteinsMuscle Proteinscardiomyopathygeneticsion channelpediatrics

Identifiers

PMID29431102
PMCPMC5850229
OpenAlexW2790413701

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.