Evidence map›Paper›PMID 32152251›Full record

ArticleJournal of medical genetics2020

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.

Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

Open access · bronzeAbstract read
In one paragraph

Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. A Novel Mutation ofInternational medical case reports journal · 2025
    Article
  7. Review
  8. Impaired Tertiary Dentin Secretion after Shallow Injury inInternational journal of molecular sciences · 2024
    Article
  9. Review
  10. Frontiers in physiology · 2023
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    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

10 authors at 2 institutions in 1 country.

Priyam JaniCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0001-7768-7865
Quynh C NguyenCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0003-2084-4473
Konstantinia AlmpaniCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0001-7558-6796
Cyrus KeyvanfarCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0001-8681-6577
Rashmi MishraCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0002-3696-750X
Denise LibertonCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0002-2885-8864
Pamela OrzechowskiCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.ORCID 0000-0003-4973-1413
Pamela A Frischmeyer-GuerrerioFood Allergy Research Unit, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.ORCID 0000-0003-2259-5546
Olivier DuvergerCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA olivier.duverger@nih.gov janice.lee@nih.gov.ORCID 0000-0003-3200-1019
Janice S LeeCraniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA olivier.duverger@nih.gov janice.lee@nih.gov.ORCID 0000-0001-5164-5958
National Institute of Dental and Craniofacial Research · USNational Institute of Allergy and Infectious Diseases · US

Funding

NIDCR DIR Clinical Support ServicesZIDDE000728 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI LEE, JANICE · 2009 to 2025
$76.2M
Craniofacial Anomalies and RegenerationZIADE000746 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI LEE, JANICE · 2015 to 2025
$12.3M
The Role of Transforming Growth Factor Beta (TGFbeta) in Promoting Allergic InflammationZIAAI001203 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI FRISCHMEYER-GUERRERIO, PAMELA · 2015 to 2025
$10.6M
NIDCR DIR Clinical TrainingZIEDE000727 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI MAYS, JACQUELINE · 2009 to 2025
$6.8M
Intramural NIH HHS ZIA AI001203Intramural NIH HHS ZIA DE000746Intramural NIH HHS ZID DE000728
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdolescentAdultChildConnective Tissue DiseasesFemaleGenetic Predisposition to DiseaseHumansLoeys-Dietz SyndromeMaleMiddle AgedMutationPhenotypeReceptor, Transforming Growth Factor-beta Type IReceptor, Transforming Growth Factor-beta Type IITooth AbnormalitiesYoung AdultReceptor, Transforming Growth Factor-beta Type IReceptor, Transforming Growth Factor-beta Type IITGFBR1 protein, humanTGFBR2 protein, humanconnective tissue diseasediagnosisgeneticsgetting research into practice

Identifiers

PMID32152251
PMCPMC7525783
OpenAlexW3010215244

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.