Evidence map›Paper›PMID 38178912›Full record

ArticleFrontiers in pediatrics2023

Case Report: Novel biallelic moderately damaging variants in

Ferruccio Romano, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Luca Maragliano, Mohammad Sadegh Shams Nosrati and 4 more

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

Article in Frontiers in pediatrics, 2023. 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
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

0 citing papers in PubMed, 3 citations in OpenAlex.

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

14 authors at 5 institutions in 1 country.

Ferruccio RomanoGenomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Elisabetta AmadoriDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
Francesca MadiaMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Valeria CapraGenomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Renata RizzoChild Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Rita BaroneChild Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Beatrice CorradiDepartment of Experimental Medicine, University of Genova, Genova, Italy.
Luca MaraglianoCenter for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genova, Italy.
Mohammad Sadegh Shams NosratiMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Antonio FalaceMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
Federico ZaraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
Istituto Giannina Gaslini · ITUniversity of Genoa · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversity of Catania · ITItalian Institute of Technology · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rotatin, encoded by the

Indexed as

cerebellar dysplasiacognitive impairmentmicrocephalymultiple arachnoid cystsRTTNseizures

Identifiers

PMID38178912
PMCPMC10764497
OpenAlexW4390056272

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.