Evidence map›Paper›PMID 40869929›Full record

Observational studyGenes2025

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Federico Calà, Elisabetta Sforza, Lucia D'Alatri, Lorenzo Frassineti, Claudia Manfredi, Roberta Onesimo, Donato Rigante, Marika Pane, Serenella Servidei, Guido Primiano and 5 more

Abstract readObservational Study
In one paragraph

Observational study in Genes, 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

15 authors.

Federico CalàDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.ORCID 0009-0001-2214-8597
Elisabetta SforzaFaculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.ORCID 0000-0002-5646-7406
Lucia D'AlatriUnit for Ear, Nose and Throat Medicine, Department of Neuroscience, Sensory Organs and Chest, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0003-3104-958X
Lorenzo FrassinetiDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.ORCID 0000-0001-7455-5656
Claudia ManfrediDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.ORCID 0000-0001-6364-9753
Roberta OnesimoDepartment of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0003-3128-6657
Donato RiganteDepartment of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0001-7032-7779
Marika PaneCentro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4851-6124
Serenella ServideiDipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0001-8478-2799
Guido PrimianoDipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0001-7616-7008
Giangiorgio CrisponiIndependent Researcher, 09042 Cagliari, Italy.ORCID 0000-0001-5497-6138
Laura CrisponiInstitute for Genetic and Biomedical Research (IRGB), The National Research Council (CNR), Monserrato, 09042 Cagliari, Italy.ORCID 0000-0001-9128-8537
Chiara LeoniDepartment of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4089-637X
Antonio LanatàDepartment of Information Engineering, University of Florence, 50139 Florence, Italy.ORCID 0000-0002-6540-5952
Giuseppe ZampinoDepartment of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-2661-4831

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

HyperhidrosisVoiceAdolescentAdultChildDeath, SuddenFaciesFemaleHand Deformities, CongenitalHumansMalePhenotypeTrismusYoung AdultCrisponi/cold-induced sweating syndromegeneticshuman phenotype ontologymachine learningphonotype

Identifiers

PMID40869929
PMCPMC12385400

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.