ReviewAmerican journal of medical genetics. Part A2020
Healthcare recommendations for Joubert syndrome.
Review in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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.
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.
Who cites it
68 citing papers in PubMed, 117 citations in OpenAlex.
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis.Intractable & rare diseases research · 2026Article
- Article
- Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.Human genomics · 2026Article
- Case series: Joubert syndrome and eosinophilic esophagitis.JPGN reports · 2026Article
- Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study.Journal of clinical medicine · 2026Article
- Functional Motor Assessment and Rehabilitation in Joubert Syndrome: A Narrative Review and Conceptual Framework for Pediatric Neurorehabilitation.Children (Basel, Switzerland) · 2026Review
- Midbrain Malformation Presenting With Hypogonadism and Short Stature.JCEM case reports · 2026Article
- Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.Children (Basel, Switzerland) · 2026Article
- Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series.Brain sciences · 2026Article
- Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report.Progress in rehabilitation medicine · 2026Article
- Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review.Frontiers in pediatrics · 2026Article
- Genetic Characterization of Joubert Syndrome with COACH Features and in Silico Prediction ofMedical journal of the Islamic Republic of Iran · 2026Article
- Further evidence ofJournal of medical genetics · 2025Article
- Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.Journal of cell science · 2025Review
- CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.Journal of cell science · 2025Article
- Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report.Radiology case reports · 2025Article
- New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.Reports (MDPI) · 2025Article
- A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification.Nature communications · 2025Article
- Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.European journal of human genetics : EJHG · 2025Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 15 institutions in 7 countries.
Funding
Abstract
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.