Evidence map›Paper›PMID 37441550›Full record

ArticleFrontiers in genetics2023

Parental gonadossomatic mosaicism in

Maria Abreu, Tiago Branco, Sónia Figueiroa, Cláudia Falcão Reis

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

4 authors at 3 institutions in 1 country.

Maria AbreuMedical Genetics Department, Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Tiago BrancoPediatric Department, Centro Hospitalar Tâmega e Sousa, Penafiel, Portugal.
Sónia FigueiroaDivision of Pediatric Neurology, Department of Child and Adolescent, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Cláudia Falcão ReisMedical Genetics Department, Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Centro Hospitalar do Porto · PTCentro Hospitalar do Tâmega e Sousa · PTUniversity of Minho · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the

Indexed as

case reportgenetic counsellingHIVEP2intellectual development disorderMRD43

Identifiers

PMID37441550
PMCPMC10333530
OpenAlexW4382459770

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.