Evidence map›Paper›PMID 37895297›Full record

ArticleGenes2023

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

Linda M Reis, David J Amor, Raad A Haddad, Catherine B Nowak, Kim M Keppler-Noreuil, Smith Ann Chisholm, Elena V Semina

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
4.4field-weighted citation impact, top 5% 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

7 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Main genetic entities associated with tooth agenesis.Clinical oral investigations · 2024
    Review
  5. Article
  6. Review
  7. 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

7 authors at 6 institutions in 2 countries.

Linda M ReisDepartment of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI 53226, USA.ORCID 0000-0002-5098-6336
David J AmorMurdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.ORCID 0000-0001-7191-8511
Raad A HaddadDivision of Endocrinology, Diabetes, and Metabolic Diseases, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA 19107, USA.
Catherine B NowakDivision of Genetics and Metabolism, MassGeneral Hospital for Children, Boston, MA 02114, USA.
Kim M Keppler-NoreuilDepartment of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA.ORCID 0000-0001-8250-164X
Smith Ann ChisholmDepartment of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Elena V SeminaDepartment of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI 53226, USA.ORCID 0000-0003-0531-3586
Children's Hospital of Wisconsin · USMassachusetts General Hospital · USMedical College of Wisconsin · USThe University of Melbourne · AUThomas Jefferson University · USUniversity of Wisconsin–Madison · US

Funding

Molecular Mechanisms of Axenfeld-Rieger SyndromeR01EY015518 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Elena V Semina · 2005 to 2026
$5.6M
MAB21L Family in Human Ocular Disease and DevelopmentR01EY025718 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI SEMINA, ELENA V · 2017 to 2020
$1.4M
NEI NIH HHS R01 EY015518NEI NIH HHS R01 EY025718
6 · The paper itself

Abstract

Axenfeld-Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities.

Indexed as

Eye AbnormalitiesTranscription FactorsAnterior Eye SegmentEye Diseases, HereditaryHomeodomain ProteinsHumansUbiquitin ThiolesteraseHomeodomain ProteinsTranscription FactorsUbiquitin ThiolesteraseUSP9X protein, humanAMELXAxenfeld–Rieger anomalyAxenfeld–Rieger syndromeBCORCDK13HCCSJAG1USP9X

Identifiers

PMID37895297
PMCPMC10606241
OpenAlexW4387705797

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.