Evidence map›Paper›PMID 36980931›Full record

ArticleGenes2023

Identification of Two Homozygous Variants in

Marta W Szulik, Miguel Reyes-Múgica, Daniel F Marker, Ana M Gomez, Matthew D Zinn, Leslie K Walsh, Juan Pablo Ochoa, Sarah Franklin, Lina Ghaloul-Gonzalez

Open access · goldFull text readCase Reports
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

4 citing papers in PubMed, 2 citations in OpenAlex.

  1. ThebioRxiv : the preprint server for biology · 2026
    Article
  2. Article
  3. Hsf1 is essential for proteotoxic stress response in smyd1b-deficient embryos and fish survival under heat shock.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  4. 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

9 authors at 3 institutions in 2 countries.

Marta W SzulikNora Eccles Harrison Cardiovascular Research & Training Institute, University of Utah, Salt Lake City, UT 84112, USA.ORCID 0000-0001-5412-8219
Miguel Reyes-MúgicaDivision of Pediatric Pathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15224, USA.ORCID 0000-0001-5698-3702
Daniel F MarkerDivision of Neuropathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Ana M GomezDivision of Pediatric Pathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15224, USA.
Matthew D ZinnDivision of Cardiology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA.
Leslie K WalshDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA.
Juan Pablo OchoaBiomedical Research Institute of A Coruña, 15006 A Coruña, Spain.
Sarah FranklinNora Eccles Harrison Cardiovascular Research & Training Institute, University of Utah, Salt Lake City, UT 84112, USA.
Lina Ghaloul-GonzalezDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA.
University of Pittsburgh · USUniversity of Utah · USUniversidade da Coruña · ES

Funding

The methyltransferase Smyd1 regulates cardiac physiologyR01HL161045 · NHLBI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Sarah Franklin · 2022 to 2026
$1.9M
Regulation of cardiac hypertrophy and failure by the histone methyltransferase Smyd1R01HL130424 · NHLBI · UNIVERSITY OF UTAH · PI FRANKLIN, SARAH · 2016 to 2019
$1.5M
Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General PopulationK08HG010490 · NHGRI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GHALOUL-GONZALEZ, LINA · 2019 to 2023
$910k
Smyd1's role in regulating disease-induced remodeling and gene expression in the cardiomyocyte per period 09/01/2020-08/31/2021.F32HL144034 · NHLBI · UNIVERSITY OF UTAH · PI SZULIK, MARTA · 2018 to 2021
$245k
NHGRI NIH HHS 1K08-HG-010490NHGRI NIH HHS K08 HG010490NHLBI NIH HHS F32 HL144034NHLBI NIH HHS R01 HL130424NHLBI NIH HHS R01 HL161045NIH HHS F32-HL-144034NIH HHS R01-HL-130424
6 · The paper itself

Abstract

Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the

Indexed as

Cardiomyopathy, HypertrophicHeart FailureAdultCarrier ProteinsCytoskeletal ProteinsDNA-Binding ProteinsFemaleHumansInfantMaleMuscle ProteinsMutationTranscription FactorsCarrier ProteinsCytoskeletal ProteinsDNA-Binding ProteinsMuscle ProteinsSMYD1 protein, humanTranscription Factorsbiventricular heart failurehypertrophic cardiomyopathyinfantile cardiomyopathyMYBPC3SMYD1

Identifiers

PMID36980931
PMCPMC10048717
OpenAlexW4323318383

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read50
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.