Evidence map›Paper›PMID 36833224›Full record

ArticleGenes2023

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of

Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi and 32 more

Abstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025
    Article
  3. Review
  4. Article
  5. 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

42 authors.

Claudia DosiIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Anna RubegniIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0002-0484-3799
Jacopo BaldacciKode Data Analysis s.r.l., 56128 Pisa, Italy.
Daniele GalatoloIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0001-9402-2910
Stefano DocciniIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0002-5534-8253
Guja AstreaIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Angela BerardinelliIRCCS C. Mondino Foundation, 27100 Pavia, Italy.ORCID 0000-0002-4645-8055
Claudio BrunoCenter of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Giorgia BrunoDepartment of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", 81100 Naples, Italy.ORCID 0000-0001-9388-9336
Giacomo Pietro ComiDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.ORCID 0000-0002-1383-5248
Maria Alice DonatiMetabolic Disease Unit, AOU Meyer Children Hospital, 50139 Florence, Italy.
Maria Teresa DottiUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Massimiliano FilostoDepartment of Clinical and Experimental Sciences, University of Brescia, NeMO-Brescia Clinical Center for Neuromuscular Diseases, 25064 Brescia, Italy.ORCID 0000-0002-2852-7512
Chiara FiorilloDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, 16147 Genova, Italy.ORCID 0000-0001-9027-343X
Fabio GianniniUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Gian Luigi GigliNeurology Unit, Department of Neurosciences, University Hospital of Udine, 33100 Udine, Italy.
Marina GrandisDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, 16147 Genova, Italy.ORCID 0000-0001-6637-4425
Diego LopergoloUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.ORCID 0000-0003-2256-0482
Francesca MagriFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Maria Antonietta MaioliCentro Sclerosi Multipla, ASL Cagliari, 09047 Cagliari, Italy.
Alessandro MalandriniUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Roberto MassaNeuromuscular Diseases Unit, Department of Systems Medicine, Tor Vergata University of Rome, 00133 Rome, Italy.
Sabrina MatàCareggi University Hospital, Neurology Unit, 50134 Florence, Italy.
Federico MelaniPediatric Neurology, AOU Meyer Children Hospital, 50139 Florence, Italy.
Sonia MessinaUnit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.
Andrea MignarriUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Maurizio MoggioFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, 20122 Milan, Italy.
Elena Maria PennisiNeuromuscular Diseases Center, Neurology Unit, San Filippo Neri Hospital, 00135 Rome, Italy.ORCID 0000-0002-0600-6855
Elena PegoraroDepartment of Neurosciences, University of Padova, 35122 Padova, Italy.ORCID 0000-0002-7740-4156
Giulia RicciDepartment of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Michele SacchiniMetabolic Disease Unit, AOU Meyer Children Hospital, 50139 Florence, Italy.
Angelo SchenoneDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, 16147 Genova, Italy.ORCID 0000-0002-2604-7830
Simone SampaoloDepartment of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", 81100 Naples, Italy.
Monica SciaccoFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, 20122 Milan, Italy.
Gabriele SicilianoDepartment of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Giorgio TascaUnit of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, 00168 Rome, Italy.ORCID 0000-0003-0849-9144
Paola ToninDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, 37129 Verona, Italy.
Rossella TuplerDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41121 Modena, Italy.ORCID 0000-0002-3797-1789
Mariarosaria ValenteNeurology Unit, Department of Neurosciences, University Hospital of Udine, 33100 Udine, Italy.
Nila VolpiUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Denise CassandriniIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0002-3556-8638
Filippo Maria SantorelliIRCCS Fondazione Stella Maris, 56128 Pisa, Italy.ORCID 0000-0002-1359-9062

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thanks to advances in gene sequencing,

Indexed as

Muscular DiseasesRyanodine Receptor Calcium Release ChannelGenetic Association StudiesGenotypeHumansPhenotypeRyanodine Receptor Calcium Release Channelgenotype–phenotype correlationNGSRYR1-related myopathiesunsupervised cluster analysis

Identifiers

PMID36833224
PMCPMC9956305

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.