Evidence map›Paper›PMID 37663545›Full record

ArticleHGG advances2023

Rare variants in

Elizabeth E Blue, Janson J White, Michael K Dush, William W Gordon, Brent H Wyatt, Peter White, Colby T Marvin, Emmi Helle, Tiina Ojala, James R Priest and 19 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-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

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
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

29 authors at 16 institutions in 3 countries.

Elizabeth E BlueDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Janson J WhiteInvitae, San Francisco, CA, USA.
Michael K DushDepartment of Molecular Biomedical Sciences, North Carolina State University, Raleigh, NC, USA.
William W GordonDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Brent H WyattDepartment of Molecular Biomedical Sciences, North Carolina State University, Raleigh, NC, USA.
Peter WhiteInstitute for Genomic Medicine, Nationwide Children's Hospital, and Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Colby T MarvinDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Emmi HelleNew Children's Hospital and Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland.
Tiina OjalaNew Children's Hospital and Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland.
James R PriestStanford University School of Medicine, Lucile Packard Children's Hospital, Stanford, CA, USA.
Mary M JenkinsNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Lynn M AlmliNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Jennita ReefhuisNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Faith PangilinanGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lawrence C BrodyGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Kim L McBrideCenter for Cardiovascular Research, Nationwide Children's Hospital, and Division of Genetic and Genomic Medicine, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Vidu GargCenter for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, and Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Gary M ShawDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Paul A RomittiDepartment of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA, USA.
Wendy N NembhardUniversity of Arkansas for Medical Sciences, Little Rock, AR, USA.
Marilyn L BrowneBirth Defects Registry, New York State Department of Health, Albany, NY, USA.
Martha M WerlerDepartment of Epidemiology, Boston University School of Public Health, Boston, MA, USA.
Denise M KayDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA.
National Birth Defects Prevention Study
University of Washington Center for Mendelian Genomics
Seema MitalDepartment of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Jessica X ChongBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Nanette M Nascone-YoderDepartment of Molecular Biomedical Sciences, North Carolina State University, Raleigh, NC, USA.
Michael J BamshadBrotman Baty Institute for Precision Medicine, Seattle, WA, USA.
University of Washington · USCenters for Disease Control and Prevention · USNationwide Children's Hospital · USNorth Carolina State University · USNational Institutes of Health · USNew York State Department of Health · USBoston University · USHelsinki University Hospital · FIInvitae (United States) · USLucile Packard Children's Hospital · USStanford University · USUniversity of Arkansas for Medical Sciences · USUniversity of Helsinki · FIUniversity of Iowa · USUniversity of Toronto · CAUniversity of Washington Medical Center · US

Funding

The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Ahead of the Curve: Mechanisms of Left-Right Asymmetric Stomach MorphogenesisR01HD095937 · NICHD · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NASCONE-YODER, NANETTE M · 2018 to 2022
$1.5M
EPA EP-D-18-001HSRD VA CDP 13-003NCBDD CDC HHS U01 DD001032NCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001227NCBDD CDC HHS U01 DD001302NCBDD CDC HHS U01 DD001304NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NICHD NIH HHS R01 HD095937
6 · The paper itself

Abstract

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.e., iHLHS) in 70% of families, the vast majority of which are simplex. Despite intense investigation, the genetic basis of iHLHS remains largely unknown. We performed exome sequencing on 331 families with iHLHS aggregated from four independent cohorts. A Mendelian-model-based analysis demonstrated that iHLHS was not due to single, large-effect alleles in genes previously reported to underlie iHLHS or CHD in >90% of families in this cohort. Gene-based association testing identified increased risk for iHLHS associated with variation in

Indexed as

Hypoplastic Left Heart SyndromeAllelesAnimalsAortaCalpainCerebral VentriclesHumansCalpainCAPN2 protein, humanassociationcongenital heart defectdevelopmentexome sequencingfrogoligogenicXenopus

Identifiers

PMID37663545
PMCPMC10474499
OpenAlexW4385782227

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.