Evidence map›Paper›PMID 33557580›Full record

Trial reportCirculation research2021

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.

Tarsha Ward, Warren Tai, Sarah Morton, Francis Impens, Petra Van Damme, Delphi Van Haver, Evy Timmerman, Gabriela Venturini, Kehan Zhang, Min Young Jang and 22 more

Open access · hybridAbstract readClinical Trial
In one paragraph

Trial report in Circulation research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.3field-weighted citation impact, top 6% 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

32 citing papers in PubMed, 51 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Cells · 2025
    Article
  6. Review
  7. Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.Journal of neuroradiology = Journal de neuroradiologie · 2025
    Article
  8. Article
  9. Article
  10. ModelingJournal of the American Heart Association · 2025
    Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Technologies to Study Genetics and Molecular Pathways.Advances in experimental medicine and biology · 2024
    Review
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

32 authors at 15 institutions in 5 countries.

Tarsha WardGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Warren TaiGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Sarah MortonGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Francis ImpensVIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
Petra Van DammeBiochemistry and Microbiology (P.V.D.), Ghent University, B-9000 Ghent, Belgium.
Delphi Van HaverVIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
Evy TimmermanVIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
Gabriela VenturiniGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Kehan ZhangBiomedical Engineering, Boston University, MA (K.Z., C.S.C.).
Min Young JangGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Jon A L WillcoxGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Alireza HaghighiGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Bruce D GelbGenetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (B.D.G.).
Wendy K ChungPediatrics and Medicine, Columbia University Medical Center, New York (W.K.C.).
Elizabeth GoldmuntzCardiology, Children's Hospital of Philadelphia, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.).
George A PorterPediatrics, University of Rochester Medical Center (G.A.P.).
Richard P LiftonGenetics, Yale University School of Medicine, New Haven (R.P.L., M.B.).
Martina BruecknerGenetics, Yale University School of Medicine, New Haven (R.P.L., M.B.).
H Joseph YostMolecular Medicine Program, University of Utah, Salt Lake City (H.J.Y.).
Benoit G BruneauGladstone Institutes, San Francisco, CA (B.G.B.).
Joshua GorhamGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Yuri KimGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Alexandre PereiraGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Jason HomsyGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Craig C BensonGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Steven R DePalmaGenetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Sylvia VarlandBiomedicine (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
Christopher S ChenBiomedical Engineering, Boston University, MA (K.Z., C.S.C.).
Thomas ArnesenBiomedicine (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
Kris Gevaert *Biomolecular Medicine (F.I., D.V.H., E.T., K.G.), Ghent University, B-9000 Ghent, Belgium.
Christine Seidman *Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
J G Seidman *Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
Jisc · GBUniversity College Ghent · BEBrigham and Women's Hospital · USBoston University · USYale University · USBoston Children's Hospital · USCellular Research (United States) · USChildren's Hospital of Philadelphia · USColumbia University Irving Medical Center · USGladstone Institutes · USHaukeland University Hospital · NOIcahn School of Medicine at Mount Sinai · USUniversidade de São Paulo · BRUniversity of Rochester Medical Center · USUniversity of Utah · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Administrative Coordinating Center: Cardiovascular Development and Pediatric Cardiac Genomics ConsortiaU01HL131003 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI CNOTA, JAMES, OLLBERDING, NICHOLAS J · 2016 to 2024
$54.8M
MULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1M
Genomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7M
Genetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9M
The Epigenetic Landscape of Heart DevelopmentUM1HL098179 · NHLBI · J. DAVID GLADSTONE INSTITUTES · PI BRUNEAU, BENOIT GAETAN, POLLARD, KATHERINE S. · 2015 to 2019
$4.7M
Regulation of Cardiac Development in Health and DiseaseUM1HL098166 · NHLBI · HARVARD MEDICAL SCHOOL · PI PENNACCHIO, LEN ALEXANDER, PU, WILLIAM TSWENCHING · 2015 to 2019
$4.4M
The Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3M
Molecular Causes of Down Syndrome Associated Congenital Heart Disease and Other PhenotypesR01HL151257 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2019 to 2019
$3.7M
Identifying and applying genetic variation relevant to clinical outcomes for individuals with congenital heart diseaseU01HL153009 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, GELB, BRUCE D · 2020 to 2024
$2.3M
Genetics of conotruncal defects and associated neurodevelopmental outcomesUM1HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2015 to 2019
$2.3M
Pediatric Heart Network Joint Heart Program ConsortiumUM1HL172717 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI Louis Bezold, James Cnota · 2024 to 2026
$1.3M
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR001863NHLBI NIH HHS K08 HL150284NHLBI NIH HHS R01 HL151257NHLBI NIH HHS T32 HL007208NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL131003NHLBI NIH HHS U01 HL153009NHLBI NIH HHS UM1 HL098123NHLBI NIH HHS UM1 HL098166NHLBI NIH HHS UM1 HL098179NHLBI NIH HHS UM1 HL172717
6 · The paper itself

Abstract

[Figure: see text].

Indexed as

Protein Processing, Post-TranslationalAcetylationCells, CulturedChildHaploinsufficiencyHeart Defects, CongenitalHumansInduced Pluripotent Stem CellsMutation, MissenseN-Terminal Acetyltransferase AN-Terminal Acetyltransferase EProteomeNAA15 protein, humanN-Terminal Acetyltransferase AN-Terminal Acetyltransferase EProteomecongenital heart defectshaploinsufficiencyinduced pluripotent stem cellsproteinsproteomicsribosomes

Identifiers

PMID33557580
PMCPMC8048381
OpenAlexW3126844224

What OpenQuestion holds

Textmetadata
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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.