Evidence map›Paper›PMID 39336775›Full record

ArticleGenes2024

A Novel De Novo

Lorenzo Cipriano, Roberta Russo, Immacolata Andolfo, Mariangela Manno, Raffaele Piscopo, Achille Iolascon, Carmelo Piscopo

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Genes · 2026
    Article
  4. Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025
    Review
  5. Diagnostics (Basel, Switzerland) · 2025
    Article
  6. A novel frameshiftFrontiers in pediatrics · 2025
    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

7 authors.

Lorenzo CiprianoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
Roberta RussoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.ORCID 0000-0002-3624-7721
Immacolata AndolfoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
Mariangela MannoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
Raffaele PiscopoDepartment of Neuroscience, Reproductive and Odontostomatological Sciences, University Federico II, 80131 Naples, Italy.ORCID 0000-0001-6109-8046
Achille IolasconDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.ORCID 0000-0002-9558-0356
Carmelo PiscopoMedical and Laboratory Genetics Unit, A.O.R.N. "Antonio Cardarelli", 80131 Naples, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe METHODS AND

resultsWe report, for the first time, two twins affected by a syndromic neurodevelopmental disorder associated with a de novo variant in the

conclusionsWe found different degrees of behavioral, speech and cognitive impairment in two twins affected by a neurodevelopmental disorder associated with a

Indexed as

Cell Cycle ProteinsNeurodevelopmental DisordersTwins, MonozygoticChildChild, PreschoolFemaleHumansIntellectual DisabilityMaleNuclear ProteinsPhenotypeCell Cycle ProteinsNuclear ProteinsSTAG1 protein, humancohesin complexcohesinopathiesCornelia de LangeRAD21SMC1ASMC3STAG1STAG2

Identifiers

PMID39336775
PMCPMC11431552

What OpenQuestion holds

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Registered trials

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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.