ArticleOphthalmic genetics2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Open access · greenAbstract readMulticenter Study
In one paragraph
Article in Ophthalmic genetics, 2021. 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
2.2field-weighted citation impact, top 11% of its field
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- Association ofInternational journal of molecular sciences · 2026Article
- Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.European journal of human genetics : EJHG · 2025Article
- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.Clinical genetics · 2025Article
- PHARC syndrome: an overview.Orphanet journal of rare diseases · 2024Review
- Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?Diagnostics (Basel, Switzerland) · 2024Review
- CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.Investigative ophthalmology & visual science · 2024Article
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.Audiology research · 2024Review
- Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.BMC medical genomics · 2023Article
- Novel Variant inCells · 2023Article
- Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.Clinical genetics · 2023Article
- Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.Translational vision science & technology · 2023Article
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.Human genetics · 2022Article
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Case report: A case of corneal deposits between binocular descemet membrane and corneal endothelial layer after small-incision lenticule extraction (SMILE) followed by HPV vaccine.Frontiers in medicine · 2022Article
- Article
Corrections and comments
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Authors and funding
21 authors at 13 institutions in 6 countries.
Austin D IgelmanCasey Eye Institute, Oregon Health & Science University, Portland, OR, USA.ORCID 0000-0002-6972-0458
Cristy KuCasey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
Mariana Matioli da PalmaCasey Eye Institute, Oregon Health & Science University, Portland, OR, USA.ORCID 0000-0001-5770-279X
Michalis GeorgiouUCL Institute of Ophthalmology, University College London, London, UK.
Elena R SchiffUCL Institute of Ophthalmology, University College London, London, UK.
Byron L LamBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Eeva-Marja SankilaDepartment of Ophthalmology, Helsinki University Eye Hospital, Helsinki, Finland.
Jeeyun AhnUCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.ORCID 0000-0001-9017-1652
Lindsey PyersUCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Canada.
Juliana Maria Ferraz SallumDepartment of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.ORCID 0000-0002-7206-4447
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Jin Kyun OhJonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.
Ramiro S MaldonadoDepartment of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, KY, USA.ORCID 0000-0002-8440-2095
Joseph RyuJonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.
Stephen H TsangJonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.
Michael B GorinUCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.ORCID 0000-0001-9498-7982
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-6915-9560
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-1552-7046
Paul YangCasey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
Mark E PennesiCasey Eye Institute, Oregon Health & Science University, Portland, OR, USA.ORCID 0000-0002-4943-6599
Oregon Health & Science University · USMoorfields Eye Hospital NHS Foundation Trust · GBColumbia University Irving Medical Center · USNational Institutes of Health · USNew York Stem Cell Foundation · USSeoul National University · KRState University of New York · USUniversidade Federal de São Paulo · BRUniversity of California, Los Angeles · USUniversity of Helsinki · FIUniversity of Kentucky · USUniversity of Miami · USUniversity of Toronto · CA
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3MProteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI Kate E Keller · 1995 to 2026
$19.4MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MTherapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9MThe Jackson Laboratory Center for Precision Genetics: From New Models to Novel TherapeuticsU54OD020351 · OD · JACKSON LABORATORY · PI BURGESS, ROBERT W. · 2015 to 2019
$10.2MTranslational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6MMEASURES OF HUMAN RECEPTOR AND POST RECEPTOR ACTIVITYR01EY009076 · NEI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI BIRCH, DAVID G, HOOD, DONALD C. · 1991 to 2021
$8.3MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MNatural History and Genetic Studies of Usher SyndromeZIAEY000528 · NEI · NATIONAL EYE INSTITUTE · PI ZEIN, WADIH · 2012 to 2025
$3.6MQuantitative Fundus Autofluorescence in Retinal DisordersR01EY024091 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE · 2014 to 2022
$3.4MMechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6MNCI NIH HHS P30 CA013696NEI NIH HHS K08 EY026650NEI NIH HHS P30 EY010572NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY009076NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024091NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY026682NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS U01 EY030580NIA NIH HHS R21 AG050437NIH HHS U54 OD020351
Abstract
Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in
Indexed as
AdolescentAdultAgedArylsulfatasesAutoantigensCell Cycle ProteinsCodon, NonsenseCone-Rod DystrophiesFemaleFrameshift MutationGenetic TestingHearing Loss, SensorineuralHumansMaleMiddle AgedMonoacylglycerol LipasesABHD12 protein, humanARSG protein, humanArylsulfatasesAutoantigensCell Cycle ProteinsCEP250 protein, humanCEP78 protein, humanCodon, NonsenseMonoacylglycerol LipasesABHD12ARSGAtypical usher syndromecep250CEP78
Identifiers
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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.