Evidence map›Paper›PMID 42645097›Full record

ArticleDiseases (Basel, Switzerland)2026

Variable Expressiveness of a Novel Pathogenic

Luz María González Huerta, Miguel Ángel Fonseca Sánchez, Marcela Esquivel Velázquez, Jaime Toral López

Abstract read
In one paragraph

Article in Diseases (Basel, Switzerland), 2026. 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

4 authors.

Luz María González HuertaPharmacogenomics and NGS Laboratory, Research Department, Hospital General de México "Dr. Eduardo Liceaga", Mexico City 06820, Mexico.ORCID 0000-0002-8065-0382
Miguel Ángel Fonseca SánchezOffice of Registration and Monitoring, Research Department, Hospital General de México "Dr. Eduardo Liceaga", Mexico City 06820, Mexico.
Marcela Esquivel VelázquezProteomics and Metabolomics Laboratory, Research Department, Hospital General de México "Dr. Eduardo Liceaga", Mexico City 06820, Mexico.ORCID 0000-0002-2975-8603
Jaime Toral LópezDepartment of Medical Genetics, Centro Médico Ecatepec, Instituto de Seguridad Social del Estado de México y Municipios (ISSEMyM), Estado de México 55000, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorder, speech impairment, and dysmorphic facies (NEDSID) is an autosomal dominant condition primarily driven by

Indexed as

FLOS domainmissense variantNEDSIDneurodevelopmental disorderSETD1Avariable expressiveness

Identifiers

PMID42645097
PMCPMC13512384

What Socratic holds

Textmetadata
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 Socratic graph.