Evidence map›Paper›PMID 33281559›Full record

ArticleFrontiers in cellular neuroscience2020

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Juergen Neesen, Franco Laccone, Julia Eckl-Dorna, Jonathan J Waters, Markus Schreiner, Sami Samir Amr, Emma Ashton and 4 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in cellular neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 30% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024
    Article
  3. Article
  4. Article
  5. Review
  6. 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

14 authors at 3 institutions in 3 countries.

Thomas ParzefallDepartment of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Alexandra FrohneDepartment of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Martin KoenighoferDepartment of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Juergen NeesenInstitute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.
Franco LacconeInstitute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.
Julia Eckl-DornaDepartment of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Jonathan J WatersRare and Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Markus SchreinerDepartment of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
Sami Samir AmrLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, United States.
Emma AshtonRare and Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Christian SchoeferDepartment for Cell and Developmental Biology, Orphan Disease Genetics Group, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Wolfgang GstœttnerDepartment of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Klemens FreiDepartment of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
Trevor LucasDepartment for Cell and Developmental Biology, Orphan Disease Genetics Group, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Medical University of Vienna · ATGreat Ormond Street Hospital for Children NHS Foundation Trust · GBBrigham and Women's Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

autosomal dominantDFNA65exome sequencinggenotype-phenotype associationhearing lossnonsyndromicTBC1D24

Identifiers

PMID33281559
PMCPMC7689082
OpenAlexW3099456260

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.