Evidence map›Paper›PMID 40429797›Full record

ArticleInternational journal of molecular sciences2025

Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes Beyond

Julian Nevado, Blanca Escalada, Yolanda Muñoz-GªPorrero, Carmen Adan, Jair Tenorio-Castaño, Pablo Daniel Lapunzina

Abstract read
In one paragraph

Article in International journal of molecular sciences, 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. 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

6 authors.

Julian NevadoInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.ORCID 0000-0001-5611-2659
Blanca EscaladaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
Yolanda Muñoz-GªPorreroInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
Carmen AdanInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
Jair Tenorio-CastañoInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.ORCID 0000-0002-5308-2316
Pablo Daniel LapunzinaInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.ORCID 0000-0002-6324-4825

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phelan-McDermid syndrome (PMS; #MIM: 606232) is a rare neurodevelopmental disorder primarily caused by the haploinsufficiency of the

Indexed as

Chromosome DisordersGenetic Association StudiesNerve Tissue ProteinsAdolescentAdultChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 22FemaleGenotypeHumansMalePhenotypeNerve Tissue ProteinsSHANK3 protein, human22q13.33 chromosomal regiongenotype–phenotype correlationhaploinsufficiencyPhelan–McDermid syndrome (PMS)SHANK3

Identifiers

PMID40429797
PMCPMC12111097

What OpenQuestion holds

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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.