Evidence map›Paper›PMID 39958159›Full record

ArticleFrontiers in genetics2025

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Olga R Ismagilova, Tagui A Adyan, Tatiana S Beskorovainaya, Alexander V Polyakov

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Article in Frontiers in genetics, 2025. 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
–field-weighted citation impact
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.

  1. Review
  2. Five novelFrontiers in genetics · 2025
    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

4 authors.

Olga R IsmagilovaDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, Russia.
Tagui A AdyanDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, Russia.
Tatiana S BeskorovainayaDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, Russia.
Alexander V PolyakovDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Rubinstein-Taybi syndrome (RSTS) is one of the many forms of syndromic intellectual disability, occurring in the population with a frequency of 1: 100-125 thousand newborns. The specific phenotype of patients enables the so-called "portrait" diagnosis of classical cases of RSTS, followed by the analysis of the Methods: In this paper we present the results of a study of 158 Russian patients referred for molecular diagnosis of RSTS using multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS). Results: Pathogenic and likely pathogenic variants were identified in 67 patients (42.4%), of which 62 (39%) were in

Indexed as

CREBBPEP300multiple congenital anomaly syndromemultiplex ligation-dependent probe amplificationnext-generation sequencingRubinstein–Taybi syndrome

Identifiers

PMID39958159
PMCPMC11825781

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