Evidence map›Paper›PMID 40413033›Full record

ArticleJournal of medical genetics2025

Aida M Bertoli-Avella, Christian A Ganoza, Mariana Ferreira, Maryam Najafi, Daniel L Polla, Krishna Kandaswamy, Kornelia Tripolszki, Peter Bauer, Jorge Pinto Basto

Abstract read
In one paragraph

Article in Journal of medical 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. Article
  2. 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

9 authors.

Aida M Bertoli-AvellaCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany Aida.Bertoli-Avella@centogene.com.ORCID http://orcid.org/0000-0001-9544-1877
Christian A GanozaCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Mariana FerreiraCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Maryam NajafiCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Daniel L PollaCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Krishna KandaswamyCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Kornelia TripolszkiCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Peter BauerCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.
Jorge Pinto BastoCentogene GmbH, Rostock, Mecklenburg-Vorpommern, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We analysed rare variants in the non-coding

Indexed as

Genetic Predisposition to DiseaseNeurodevelopmental DisordersAllelesChildChild, PreschoolConsanguinityFemaleHumansIntellectual DisabilityMaleMutationPhenotypeSyndromeConsanguinityDiagnosisGeneticsGenomicsNeurology

Identifiers

PMID40413033
PMCPMC12322396

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.