Evidence map›Paper›PMID 38566815›Full record

ArticleFrontiers in genetics2024

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.

Florencia Brito, Catalina Lagos, Jessica Cubillos, Joan Orellana, Mallen Gajardo, Daniela Böhme, Gonzalo Encina, Gabriela M Repetto

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. 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
0.6field-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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 4 institutions in 1 country.

Florencia Brito *Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Catalina Lagos *Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Jessica CubillosFundación por Ellas y Ellos Síndrome de Rett, Santiago, Chile.
Joan OrellanaRare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Mallen GajardoEscuela de Ingeniería, Facultad de Ciencias Físicas y Matemáticas, Universidad de Chile, Santiago, Chile.
Daniela BöhmeRare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Gonzalo EncinaBiosoluciones-UDD, Santiago, Chile.
Gabriela M RepettoRare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Clínica Alemana · CLUniversidad del Desarrollo · CLFundación Chile · CLUniversity of Chile · CL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

CpG methyl-binding proteingene panelgenomic testingMeCP2neurodevelopmental disordersRett syndrome

Identifiers

PMID38566815
PMCPMC10986174
OpenAlexW4392923012

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.