Evidence map›Paper›PMID 40897677›Full record

ArticleClinical genetics2025

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.

Alfonso Manuel D'Alessio, Annalaura Torella, Manuela Morleo, Vincenzo Nigro, TUDP Study Group, Nicola Brunetti-Pierri

Abstract readCase Reports
In one paragraph

Article in Clinical genetics, 2025. 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
–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

1 citing paper in PubMed.

  1. 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.

Alfonso Manuel D'AlessioTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Annalaura TorellaTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Manuela MorleoTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Vincenzo NigroTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
TUDP Study Group
Nicola Brunetti-PierriTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID https://orcid.org/0000-0002-6895-8819

Funding

European Union PNRR-MR1-2022-12376412Fondazione Telethon GSP15001
6 · The paper itself

Abstract

of clinical and molecular findings in patients with biallelic variants in PDCD6IP.

Indexed as

Apoptosis Regulatory ProteinsCarrier ProteinsGenetic Predisposition to DiseaseMicrocephalyNeurodevelopmental DisordersAdultChildFemaleHumansMaleMutationPedigreeYoung AdultApoptosis Regulatory ProteinsCarrier Proteinsgenetic diseaseintellectual disabilitymicrocephalymultiple fracturesneurodevelopmental disorderPDCD6IPrare disease

Identifiers

PMID40897677
PMCPMC12405061

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.