Evidence map›Paper›PMID 34349782›Full record

ArticleFrontiers in genetics2021

Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.

Aleša Kristan, Tadej Pajič, Aleš Maver, Tadeja Režen, Tanja Kunej, Rok Količ, Andrej Vuga, Martina Fink, Špela Žula, Helena Podgornik and 4 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 19% 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, 11 citations in OpenAlex.

  1. Targeted Next-Generation Sequencing in Rare Diseases.Methods in molecular biology (Clifton, N.J.) · 2025
    Article
  2. Article
  3. Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.Mediterranean journal of hematology and infectious diseases · 2024
    Article
  4. Article
  5. Article
  6. 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

14 authors at 3 institutions in 1 country.

Aleša KristanMedical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Tadej PajičDepartment of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Tadeja ReženCentre for Functional Genomics and Bio-Chips, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Tanja KunejDepartment of Animal Science, Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.
Rok KoličKemomed Research and Development, Kemomed Ltd., Ljubljana, Slovenia.
Andrej VugaKemomed Research and Development, Kemomed Ltd., Ljubljana, Slovenia.
Martina FinkMedical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Špela ŽulaDepartment of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Helena PodgornikDepartment of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Saša Anžej DomaDepartment of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Irena Preložnik ZupanDepartment of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Damjana RozmanCentre for Functional Genomics and Bio-Chips, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Nataša DebeljakMedical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
University of Ljubljana · SILjubljana University Medical Centre · SIUniversity of Maribor · SI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An erythrocytosis is present when the red blood cell mass is increased, demonstrated as elevated hemoglobin and hematocrit in the laboratory evaluation. Congenital predispositions for erythrocytosis are rare, with germline variants in several genes involved in oxygen sensing (

Indexed as

diagnosticserythrocytosisiron metabolismNGS – next-generation sequencingrare disease (RD)targeted panel sequencing

Identifiers

PMID34349782
PMCPMC8327209
OpenAlexW3185255127

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.