Evidence map›Paper›PMID 38466850›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2024

The spectrum of heart defects in the

Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj, Tara Wenger, Ashish Marwaha, Nicole Johnson, Claire Beneteau and 24 more

Registry-linked trialAbstract readLetter
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06260319 (Decoding Developmental Disorders in Humams, Devodecode), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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.

NCT06260319 completednot on this map

Decoding Developmental Disorders in Humams, Devodecode

TypeobservationalSponsorInstitut National de la Santé Et de la Recherche Médicale, FranceRan2019 to 2024Enrolled720ConditionsGenetic DiseasesArmsWhole genome sequencing and Genome-Epigenome-Phenome Associations
3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Science advances · 2026
    Article
  2. Review
  3. Spatial and Temporal Expression Patterns of EDA2R, PCDH9, and TRAF7 inInternational journal of molecular sciences · 2025
    Article
  4. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.Proceedings of the National Academy of Sciences of the United States of America · 2024
    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

34 authors.

Elise PisanLaboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.ORCID 0009-0004-6867-1828
Chiara De LucaHuman Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.
Francesco BrancatiHuman Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.
Rossana Sanchez RussoDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.ORCID 0000-0003-0423-2557
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
Elizabeth BhojCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.ORCID 0000-0001-5748-3507
Tara WengerDepartment of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98105.
Ashish MarwahaAlberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada.
Nicole JohnsonAlberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada.
Claire BeneteauService de Génétique Médicale, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux F-33000, France.
Elise Brischoux-BoucherCentre de Génétique Humaine, Centre Hospitalo-Universitaire de Besançon, Besançon 25000, France.
Gunnar HougeDepartment of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway.
Julie PaulsenDepartment of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway.
Trine Bjørg HammerDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.
Jakob EkDepartment of Genetics, Rigshospitalet, Copenhagen 2100, Denmark.
Daniela SchweitzerDepartment of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
Bianca E RussellDepartment of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
Marina Dutra-ClarkeDepartment of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
Stanley NelsonDepartment of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
Emilie D DouineDepartment of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
Rosario I CoronaDepartment of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
Tracy DuddingGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
Hannah ThomsonGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
Karen LowDepartment of Clinical Genetics, St. Michaels Hospital, University Hospitals Bristol and Weston National Health Service Trust, Bristol BS2 8EJ, United Kingdom.
Newell BelnapCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012.
Maria IasconeMedical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo 24127, Italy.
Manuela PrioloUnit of Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale Cardarelli, Naples 80131, Italy.
Diana CarliDepartment of Medical Sciences, University of Torino, Torino 10124, Italy.ORCID 0000-0001-5690-6504
Alessandro MussaPediatric Clinical Genetics Unit, Ospedale Infantile Regina Margherita, Department of Public Health and Pediatric Sciences, University of Torino, Torino 10126, Italy.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
Nathan KoppDepartment of Pathology, Medical College of Wisconsin, Milwaukee, WI 53223.
Jean-Philippe JaisBiostatistics Unit, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.
Jeanne AmielLaboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.
Christopher T GordonLaboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.ORCID 0000-0002-9300-8399

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Agence Nationale de la Recherche (ANR) ANR-10-IAHU-01HHS | NIH | National Center for Advancing Translational Sciences (NCATS) UL1TR001881Merck & Co. | MSD France | MSDAVENIR Devo-DecodeMutuelles AXA Head and Heart Chair
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Abnormalities, MultipleHeart Defects, CongenitalIntellectual DisabilityHumansPhenotypeTumor Necrosis Factor Receptor-Associated Peptides and ProteinsTRAF7 protein, humanTumor Necrosis Factor Receptor-Associated Peptides and Proteins

Identifiers

PMID38466850
PMCPMC10962964

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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.