Evidence map›Paper›PMID 28958982›Full record

ArticleBalkan medical journal2018

A Novel Variant in

John Masterson, Busegül Yıldırım, Ece Gökkaya, Suna Tokgöz Yılmaz, Mustafa Tekin

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Balkan medical journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 49% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Searching for the Molecular Basis of Partial Deafness.International journal of molecular sciences · 2022
    Article
  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

5 authors at 2 institutions in 2 countries.

John MastersonJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
Busegül YıldırımJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
Ece GökkayaJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
Suna Tokgöz YılmazDepartment of Audiology, Ankara University School of Medicine, Ankara, Turkey.
Mustafa TekinJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
University of Miami · USAnkara University · TR

Funding

A Collaborative Search for New Genes for Non-Syndromic DeafnessR01DC009645 · NIDCD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN · 2010 to 2026
$11.8M
NIDCD NIH HHS R01 DC009645
6 · The paper itself

Abstract

backgroundHearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single CASE REPORT: In this report we present two members of a family with non-syndromic high frequency sensorineural hearing loss who are homozygous for a novel pathogenic

conclusionThis case report provides supportive evidence for the causative role of

Indexed as

MutationAdolescentChildDeafnessFemaleHearing LossHearing Loss, SensorineuralHumansMalePedigreeHearing lossSYNE4 gene high-throughput DNA sequencing.

Identifiers

PMID28958982
PMCPMC5863260
OpenAlexW2757320215

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.