Evidence map›Paper›PMID 34359301›Full record

ArticleDiagnostics (Basel, Switzerland)2021

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic

Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 23% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026
    Review
  2. Article
  3. Review
  4. Article
  5. Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022
    Review
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

11 authors at 2 institutions in 1 country.

Raffaella Brunetti-PierriEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131 Naples, Italy.
Marianthi KaraliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131 Naples, Italy.ORCID 0000-0003-0757-3330
Francesco TestaEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131 Naples, Italy.
Gerarda CappuccioDepartment of Translational Medicine, Federico II University, Via Pansini 5, 80131 Naples, Italy.
Maria Elena OnoreMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138 Naples, Italy.
Francesca RomanoMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 7, 80138 Naples, Italy.
Giuseppe De RosaEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131 Naples, Italy.
Enrico TedeschiDepartment of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy.ORCID 0000-0002-0511-0132
Nicola Brunetti-PierriTelethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.ORCID 0000-0002-6895-8819
Sandro BanfiTelethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.ORCID 0000-0002-6541-8833
Francesca SimonelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Via Pansini 5, 80131 Naples, Italy.
University of Campania "Luigi Vanvitelli" · ITFederico II University Hospital · IT

Funding

Università degli Studi della Campania Luigi Vanvitelli VALERE: VAnviteLli pEr la RicErca" (project DisHetGeD)
6 · The paper itself

Abstract

Pathogenic variants in the

Indexed as

autosomal recessive Retinitis PigmentosaJoubert syndromeMKS1phenotype extension

Identifiers

PMID34359301
PMCPMC8303764
OpenAlexW3181360458

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.