Evidence map›Paper›PMID 40868158›Full record

ArticleBiomedicines2025

Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel

Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, Stefania Zampieri, Anna Morgan, Stefania Lenarduzzi, Giuseppe Giovanni Nardone, Elisa Paccagnella, Stefania Cappellani, Laura Diplotti and 5 more

Abstract read
In one paragraph

Article in Biomedicines, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

15 authors.

Beatrice SpedicatiDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0002-7432-4708
Domizia PasquettiInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-8220-3420
Aurora SantinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0002-8940-5463
Stefania ZampieriInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Anna MorganInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-6290-445X
Stefania LenarduzziInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-8450-1694
Giuseppe Giovanni NardoneDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0003-1883-8939
Elisa PaccagnellaInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-1240-6513
Stefania CappellaniInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-1126-5202
Laura DiplottiInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Stefano PensieroInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0009-0008-6699-8455
Fulvio ParentinInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Paolo GaspariniDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.
Maurizio Battaglia ParodiOphthalmology Department, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Giorgia GirottoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0003-4507-6589

Funding

the Italian Ministry of Health, through the contribution given to the Institute for Maternal and Child Health I.R.C.C.S. "Burlo Garofolo", Trieste - Italy Ricerca Corrente L3_14\22 to G.G.
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

inherited eye disorderNorth Carolina macular dystrophywhole exome sequencing

Identifiers

PMID40868158
PMCPMC12383978

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.