Evidence map›Paper›PMID 34828254›Full record

ArticleGenes2021

Expanding the Phenotype of the

Sandy Siegert, Gabriel T Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R Janecke, Julia Vodopiutz

Registry-linked trialOpen access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06729554 (Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients), 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
0.3field-weighted citation impact, top 32% 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.

NCT06729554 narecruitingnot on this mapstarted 2024, after this paper: background citation

Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients

TypeinterventionalSponsorMedical University of ViennaRan2024 to 2028Enrolled100ConditionsOrphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism DisordersArmsEducation & Care in RARE
3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. 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

8 authors at 3 institutions in 1 country.

Sandy SiegertDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.
Gabriel T MindlerDepartment of Pediatric Orthopaedics, Orthopaedic Hospital Speising, 1130 Vienna, Austria.ORCID 0000-0002-8533-2164
Christof BrückeDepartment of Neurology, Medical University of Vienna, 1090 Vienna, Austria.
Andreas KranzlDepartment of Pediatric Orthopaedics, Orthopaedic Hospital Speising, 1130 Vienna, Austria.
Janina PatschVienna Bone and Growth Center, 1090 Vienna, Austria.
Markus RitterDepartment of Ophthalmology, Medical University of Vienna, 1090 Vienna, Austria.ORCID 0000-0003-1406-8340
Andreas R JaneckeDepartment of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0001-7155-0315
Julia VodopiutzDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.
Medical University of Vienna · ATOrthopaedic Hospital Speising · ATInnsbruck Medical University · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic truncating

Indexed as

Abnormalities, MultipleAdolescentAdultCerebellumCiliopathiesConsanguinityCytoskeletal ProteinsDuane Retraction SyndromeEye AbnormalitiesFemaleHumansKidney Diseases, CysticMaleNervous System MalformationsPhenotypeRetinaCytoskeletal ProteinsFAM149B1 protein, humanciliopathydeep brain stimulationduane syndromeFAM149B1Joubert syndromeKMT2Bmultiple genetic disordersolfactory bulb aplasiaPOLG2precision medicine

Identifiers

PMID34828254
PMCPMC8622907
OpenAlexW3207494156

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.