Evidence map›Paper›PMID 40943168›Full record

ArticleInternational journal of molecular sciences2025

Biallelic

Viviana Cordeddu, Elisabetta Flex, Luca Mignini, Alessandro Bruselles, Serena Cecchetti, Elena Messina, Maria Beatrice Arasi, Mattia Carvetta, Emilio Straface, Alessandro Leone and 9 more

Abstract readCase Reports
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. 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

19 authors.

Viviana CordedduDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0001-7159-7383
Elisabetta FlexDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0002-6802-1356
Luca MigniniMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0009-0005-7384-6212
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0002-1556-4998
Serena CecchettiConfocal Microscopy Unit-Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0002-3601-176X
Elena MessinaDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0002-7182-2883
Maria Beatrice ArasiDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0002-9777-2327
Mattia CarvettaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0000-0003-4584-0663
Emilio StrafaceDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0009-0004-4583-863X
Alessandro LeoneDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0009-0004-6103-3559
Daniele GuadagnoloDepartment of Experimental Medicine, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.ORCID 0000-0003-4588-1131
Maria Cecilia D'AsdiaMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Marcella NebbiosoDepartment of Sense Organs, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.ORCID 0000-0002-5512-0849
Emanuele BellacchioMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0000-0002-2757-849X
Carmen Dell'AquilaIRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.ORCID 0000-0003-4395-0818
Lucia ZiccardiIRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.ORCID 0000-0002-5563-1243
Antonio PizzutiDepartment of Experimental Medicine, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.ORCID 0000-0003-3245-1925
Alessandro De LucaMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0003-0897-3547
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0000-0001-7736-9672

Funding

Istituto Superiore di Sanità ISS20-5656c541c257Ministero della Salute RF 2021-12374963
6 · The paper itself

Abstract

A class of retinal dystrophies known as retinitis pigmentosa (RP) is caused by the loss of photoreceptor cells. RP can be genetically transmitted as an autosomal dominant, autosomal recessive, or

Indexed as

Nerve Tissue ProteinsRetinitis PigmentosaAdultAllelesCiliaFemaleFibroblastsHumansMutation, MissenseNerve Tissue ProteinsBAIAP3ciliogenesisretinal dystrophyretinitis pigmentosawhole genome sequencing

Identifiers

PMID40943168
PMCPMC12428663

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.