Evidence map›Paper›PMID 38397171›Full record

ArticleGenes2024

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

Valeriia A Kovalskaia, Anastasiia L Kungurtseva, Fatima M Bostanova, Peter A Vasiliev, Vyacheslav Y Tabakov, Mariia D Orlova, Inna S Povolotskaya, Olga G Novoselova, Roman A Bikanov, Mariia A Akhyamova and 5 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

15 authors at 2 institutions in 1 country.

Valeriia A KovalskaiaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-8728-8574
Anastasiia L KungurtsevaPediatric Endocrinology Department, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Fatima M BostanovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Peter A VasilievResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-8249-343X
Vyacheslav Y TabakovResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Mariia D OrlovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Inna S PovolotskayaJSC "First Genetics Laboratory", 111123 Moscow, Russia.
Olga G NovoselovaJSC "First Genetics Laboratory", 111123 Moscow, Russia.ORCID 0000-0002-4392-6714
Roman A BikanovJSC "First Genetics Laboratory", 111123 Moscow, Russia.
Mariia A AkhyamovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Yulia V TikhonovichPediatric Endocrinology Department, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Anastasiia V PopovichPediatric Endocrinology Department, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Alisa V VitebskayaPediatric Endocrinology Department, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Elena L DadaliResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Oxana P RyzhkovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-1285-9093
Research Centre for Medical Genetics · RUSechenov University · RU

Funding

Ministry of Science and Higher Education of the Russian Federation 075-15-2021-1061 and RF 193021X0029
6 · The paper itself

Abstract

Bi-allelic pathogenic variations within

Indexed as

ProgeriaChildFemaleFetal Growth RetardationHumansInfant, NewbornMutationRNA Polymerase IIIRussiaPOLR3A protein, humanRNA Polymerase IIImRNA analysisneonatal progeroid syndromePOLR3AWESWiedemann–Rautenstrauch syndrome

Identifiers

PMID38397171
PMCPMC10887809
OpenAlexW4391314161

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.