Evidence map›Paper›PMID 39877905›Full record

ArticleiScience2025

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.

Enrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, Martina Brueckner, John Cleveland, Wendy K Chung, Bruce D Gelb, Elizabeth Goldmuntz, Donald J Hagler, Hao Huang and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Enhancer Dynamics for Gene Regulation in the Cardiovascular System.Arteriosclerosis, thrombosis, and vascular biology · 2026
    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

21 authors.

Enrique Mondragon-EstradaDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Jane W NewburgerDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Steven R DePalmaDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Martina BruecknerDepartments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
John ClevelandDepartments of Surgery and Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Wendy K ChungDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Bruce D GelbMindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Elizabeth GoldmuntzDivision of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Donald J HaglerCenter for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, CA, USA.
Hao HuangDepartment of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.
Patrick McQuillenDepartments of Pediatrics and Neurology, University of California, San Francisco, San Francisco, CA, USA.
Thomas A MillerDepartment of Pediatrics, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.
Ashok PanigrahyDepartment of Pediatric Radiology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
George A PorterDepartment of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA.
Amy E RobertsDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Caitlin K RollinsDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Mark W RussellDepartment of Pediatrics, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA.
Martin Tristani-FirouziDivision of Pediatric Cardiology, University of Utah School of Medicine, Salt Lake City, UT, USA.
P Ellen GrantDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Kiho ImDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Sarah U MortonDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

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
The Harvard Clinical and Translational Science CenterUL1TR002541 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2018 to 2022
$93.0M
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
NHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3M
Institutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9M
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
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 Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3M
Genomic studies of secundum atrial septal defectsU01HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2009 to 2014
$4.1M
Molecular approaches to gene identification in congenital heart diseaseU01HL098163 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, WARBURTON, DOROTHY P. · 2009 to 2014
$3.9M
NCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR002541NHGRI NIH HHS U54 HG006504NHLBI NIH HHS K08 HL157653NHLBI NIH HHS U01 HL098123NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NHLBI NIH HHS U01 HL131003NICHD NIH HHS P50 HD105351
6 · The paper itself

Abstract

Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding

Indexed as

Cardiovascular medicineMachine learning

Identifiers

PMID39877905
PMCPMC11772982

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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.