Evidence map›Paper›PMID 41438914›Full record

ArticleCase reports in genetics2025

A Complex Chromosome Rearrangement Disrupting

Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, Mara Maria Lisboa Santana Pinheiro, Maria Rita Dos Santos Passos-Bueno, Carla Rosenberg, Ana Cristina Victorino Krepischi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. A Complex Chromosome Rearrangement DisruptingCase reports 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

7 authors.

Débora Romeo BertolaInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.ORCID https://orcid.org/0000-0002-4701-6777
Sofia de Oliveira FariasInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.
Silvia Souza da CostaInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.
Mara Maria Lisboa Santana PinheiroInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.
Maria Rita Dos Santos Passos-BuenoInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.ORCID https://orcid.org/0000-0002-9248-3008
Carla RosenbergInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.
Ana Cristina Victorino KrepischiInstitute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil, usp.br.ORCID https://orcid.org/0000-0003-2931-8605

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Baker-Gordon syndrome (BAGOS) is an autosomal dominant neurodevelopmental disorder caused by

Indexed as

BAGOSchromosomal rearrangementOGMSYT1

Identifiers

PMID41438914
PMCPMC12721761

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.