ArticleJournal of medical genetics2022
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Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
4.8field-weighted citation impact, top 4% of its field
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Nature communications · 2025Article
- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- A Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants.Cerebellum (London, England) · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Novel compound heterozygous variants in theFrontiers in pediatrics · 2024Article
- A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.BMC pediatrics · 2023Article
- Novel variants identified in five Chinese families with Joubert Syndrome: a case report.BMC medical genomics · 2023Article
- TOPORS as a novel causal gene for Joubert syndrome.American journal of medical genetics. Part A · 2023Article
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.Orphanet journal of rare diseases · 2023Observational
- Clinical and genetic characteristics of 36 children with Joubert syndrome.Frontiers in pediatrics · 2023Article
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis ofInternational journal of molecular sciences · 2022Article
- CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.Molecular biology reports · 2022Article
- Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
36 authors at 17 institutions in 7 countries.
Valentina SerpieriNeurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.ORCID 0000-0002-3553-0066
Fulvio D'AbruscoDepartment of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy.
Jennifer C DempseyDepartment of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
Yong-Han Hank ChengDepartment of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.ORCID 0000-0001-7686-0697
Filippo ArrigoniNeuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Janice BakerGenomics and Genetic Medicine Department, Children's Minnesota, Minneapolis, Minnesota, USA.
Roberta BattiniUnit of Child Neuropsychiatry, IRCCS Foundation Stella Maris, Calambrone, Toscana, Italy.
Enrico Silvio BertiniLaboratory of Molecular Medicine, Unit of Muscular and Neurodegenerative Diseases, Department of Neuroscience, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0001-9276-4590
Renato BorgattiDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Angela K ChristmanDepartment of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
Cynthia CurryDepartment of Pediatrics, Stanford University, Stanford, California, USA.
Stefano D'ArrigoDepartment of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0001-5188-9418
Joel FlussDepartment of Women, Children and Adolescents, Geneva University Hospitals, Geneva, Switzerland.
Michael FreilingerDepartment of Paediatric and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Simone GanaNeurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
Gisele E IshakDepartment of Neuroradiology, University of Washington School of Medicine, Seattle, Washington, USA.
Vincenzo LeuzziDepartment of Human Neuroscience, University of Rome La Sapienza, Roma, Lazio, Italy.ORCID 0000-0002-2314-6139
Hailey LoucksDepartment of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
Filippo MantiDepartment of Human Neuroscience, University of Rome La Sapienza, Roma, Lazio, Italy.
Nancy MendelsohnComplex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA.
Laura MerliniDepartment of Pediatric Radiology, Geneva University Hospitals Children's Hospital, Geneva, Switzerland.
Caitlin V MillerDepartment of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
Ansar MuhammadInstitute of Molecular and Clinical Ophthalmology, Basel, Switzerland.
Sara NuovoDepartment of Experimental Medicine, University of Rome La Sapienza, Rome, Lazio, Italy.ORCID 0000-0003-1359-5122
Romina RomanielloNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.ORCID 0000-0002-8709-6732
Wolfgang SchmidtCenter for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, Vienna, Austria.
Sabrina SignoriniChild Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
Sabrina SiliquiniChild Neuropsychiatry Unit, Paediatric Hospital G Salesi, Ancona, Italy.
Krzysztof SzczałubaDepartment of Medical Genetics, Warszawski Uniwersytet Medyczny, Warszawa, Poland.ORCID 0000-0001-8803-646X
Gessica VascoUnit of Neurorehabilitation, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
Meredith WilsonDepartment of Clinical Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Ginevra ZanniLaboratory of Molecular Medicine, Unit of Muscular and Neurodegenerative Diseases, Department of Neuroscience, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Eugen BoltshauserDepartment of Pediatric Neurology (Emeritus), University Children's Hospital Zürich, Zurich, Zürich, Switzerland.
Dan DohertyDepartment of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
Enza Maria ValenteNeurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.ORCID 0000-0002-0600-6820
University of Washington Center for Mendelian Genomics (UW-CMG) group
University of Washington · USBambino Gesù Children's Hospital · ITSapienza University of Rome · ITUniversity of Pavia · ITFondazione Istituto Neurologico Nazionale Casimiro Mondino · ITIRCCS Eugenio Medea · ITMedical University of Vienna · ATChildren's Minnesota · USFondazione IRCCS Istituto Neurologico Carlo Besta · ITMedical University of Warsaw · PLSeattle Children's Hospital · USThe University of Sydney · AUUniversity Children's Hospital Zurich · CHUniversity Hospital of Geneva · CHUniversity of California, San Francisco · USUniversity of Geneva · CHUniversity of Pisa · IT
Funding
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8MMechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9MIdentifying the missing heritability in recessive disorders using Joubert syndrome as a modelR01HD100730 · NICHD · UNIVERSITY OF WASHINGTON · PI DOHERTY, DANIEL · 2020 to 2023
$2.0MJoubert syndrome and related disorders of hindbrain developmentR01NS064077 · NINDS · UNIVERSITY OF WASHINGTON · PI DOHERTY, DANIEL · 2010 to 2014
$1.8MNHGRI NIH HHS U01 HG011744NICHD NIH HHS P50 HD103524NICHD NIH HHS R01 HD100730NICHD NIH HHS U54 HD083091NINDS NIH HHS R01 NS064077
Abstract
backgroundJoubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%-75%.In 2018, we reported homozygous hypomorphic missense variants of the
methodsWe reanalysed next generation sequencing (NGS) data in two cohorts comprising 1097 probands referred for genetic testing of JS genes.
resultsHeterozygous truncating and splice-site
conclusionHeterozygous truncating or splice-site
Indexed as
Abnormalities, MultipleCerebellar AtaxiaEye AbnormalitiesIntellectual DisabilityKidney Diseases, CysticCerebellumHaploinsufficiencyHumansMalePhenotypeRepressor ProteinsRetinaRepressor ProteinsSUFU protein, humanand neonatal diseases and abnormalitiescentral nervous system diseasescerebellar diseasescongenitalearly diagnosisgenetic variationhereditary
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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.