Evidence map›Paper›PMID 41153422›Full record

ArticleGenes2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel

Agata Cieślikowska, Agnieszka Madej-Pilarczyk, Piotr Iwanowski, Katarzyna Iwanicka-Pronicka, Dorota Wicher, Maria Jędrzejowska, Dorota Jurkiewicz, Marzena Gawlik, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska and 8 more

Abstract read
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In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

18 authors.

Agata CieślikowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0003-0603-7763
Agnieszka Madej-PilarczykDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0009-0003-7671-2848
Piotr IwanowskiDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Katarzyna Iwanicka-PronickaDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Dorota WicherDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0002-8360-0006
Maria JędrzejowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Dorota JurkiewiczDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Marzena GawlikDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Dorota Piekutowska-AbramczukDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Paulina Halat-WolskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0002-1064-0277
Jagoda BłaszkiewiczDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Izabela MendrekDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Krystyna ChrzanowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0003-3888-0624
Marlena MłynekDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0001-8685-5795
Piotr StawińskiDepartment of Medical Genetics, Medical University of Warsaw, ul. Żwirki i Wigury 61, 02-091 Warsaw, Poland.
Joanna KosińskaDepartment of Medical Genetics, Medical University of Warsaw, ul. Żwirki i Wigury 61, 02-091 Warsaw, Poland.
Małgorzata Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0001-8721-210X
Elżbieta CiaraDepartment of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.ORCID 0000-0002-1065-7968

Funding

This study was partially funding by the projects CMHI 235/15, S205/2024, MEiN 7071/IB/SN/2020, MEiN 7088/II-KDM/SN/2020 CMHI 235/15, S205/2024, MEiN 7071/IB/SN/2020, MEiN 7088/II-KDM/SN/2020
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

CREB-Binding ProteinE1A-Associated p300 ProteinRubinstein-Taybi SyndromeAdolescentAdultChildChild, PreschoolCohort StudiesDNA Copy Number VariationsFemaleHumansInfantMalePolandPolymorphism, Single NucleotideCREB-Binding ProteinCREBBP protein, humanE1A-Associated p300 ProteinEP300 protein, humanaCGHCREBBPEP300MLPAmolecular diagnosisnext-generation sequencingnovel variantspopulation geneticsRubinstein-Taybi syndrome

Identifiers

PMID41153422
PMCPMC12564014

What OpenQuestion holds

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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.