Evidence map›Paper›PMID 32911714›Full record

ArticleGenes2020

Two Novel Pathogenic Variants Confirm

Dominika Oziębło, Joanna Pazik, Iwona Stępniak, Henryk Skarżyński, Monika Ołdak

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

18 citing papers in PubMed, 30 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Molecular syndromology · 2024
    Article
  6. Clinical case reports · 2024
    Article
  7. Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024
    Review
  8. Review
  9. Article
  10. Article
  11. Review
  12. Searching for the Molecular Basis of Partial Deafness.International journal of molecular sciences · 2022
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. 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 1 country.

Dominika OziębłoDepartment of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.ORCID 0000-0002-3454-8002
Joanna PazikDepartment of Transplantation Medicine, Nephrology and Internal Diseases, Medical University of Warsaw, 02-091 Warsaw, Poland.ORCID 0000-0001-9757-4382
Iwona StępniakDepartment of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.ORCID 0000-0001-9793-2901
Henryk SkarżyńskiOto-Rhino-Laryngology Surgery Clinic, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.ORCID 0000-0001-7141-9851
Monika OłdakDepartment of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.ORCID 0000-0002-4216-9141
Institute of Physiology and Pathology of Hearing · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MutationAdultCell Cycle ProteinsFemaleGonadal Dysgenesis, 46,XXHearing Loss, SensorineuralHomozygoteHumansKidney DiseasesMalePedigreePhenotypeCell Cycle ProteinsRMND1 protein, humanCOXPD11 (combined oxidative phosphorylation deficiency)hearing lossmitochondriaovarian dysfunctionPerrault syndromerenal diseaseRMND1 (required for meiotic nuclear division 1 homolog)

Identifiers

PMID32911714
PMCPMC7564844
OpenAlexW3084050232

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.