ArticleHGG advances2023
Whole genome sequencing for
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Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
8.5field-weighted citation impact, top 2% of its field
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.Clinical genetics · 2026Article
- The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene.Molecular genetics & genomic medicine · 2026Article
- From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026Observational
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.NPJ genomic medicine · 2025Article
- Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.The Journal of pathology · 2025Article
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.Molecular medicine (Cambridge, Mass.) · 2025Article
- Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.International journal of molecular sciences · 2025Article
- Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.Genome research · 2025Article
- Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.Experimental & molecular medicine · 2025Article
- Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.European journal of human genetics : EJHG · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.Molecular therapy. Nucleic acids · 2024Article
- Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.Human genetics · 2024Article
- 18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.Scientific reports · 2024Article
- Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.Scientific reports · 2024Article
- Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.Journal of medical genetics · 2024Article
- Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Investigative ophthalmology & visual science · 2023Article
- Article
Corrections and comments
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Authors and funding
50 authors at 20 institutions in 12 countries.
Janine ReurinkDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Nicole WeisschuhMolecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
Alejandro GarantoDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Adrian DockeryThe School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland.
L Ingeborgh van den BornThe Rotterdam Eye Hospital, Rotterdam, the Netherlands.
Isabelle FajardyCentre de Biologie Pathologie Génétique, CHU de Lille, Lille, France.
Lonneke Haer-WigmanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Susanne KohlMolecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
Bernd WissingerMolecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
G Jane FarrarThe School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland.
Tamar Ben-YosefThe Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Fatma Kivrak PfiffnerInstitute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Marianna E WeenerCRO Oftalmic, Moscow, Russia.
Lubica DudakovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Petra LiskovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Dror SharonDivision of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Manar SalamehDivision of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Ashley OffenheimDivision of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Elise HeonDepartments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada.
Giorgia GirottoInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.
Paolo GaspariniInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.
Anna MorganInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.
Arthur A BergenDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.
Jacoline B Ten BrinkDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.
Caroline C W KlaverDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
Lisbeth TranebjærgDepartment of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark.
Nanna D RendtorffDepartment of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark.
Sascha VermeerCenter for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Jeroen J SmitsDonders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Ronald J E PenningsHearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
Marco AbenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Jaap OostrikHearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
Galuh D N AstutiDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Jordi Corominas GalbanyDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Hester Y KroesDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands.
Milan PhanDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
Wendy A G van Zelst-StamsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Alberta A H J ThiadensDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
Joke B G M VerheijDepartment of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Mary J van SchooneveldDepartment of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.
Suzanne E de BruijnDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Catherina H Z LiDonders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Carel B HoyngDonders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Lisenka E L M VissersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Hannie KremerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Erwin van WijkDonders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Radboud University Nijmegen · NLHebrew University of Jerusalem · ILUniversity of Tübingen · DEAmsterdam Neuroscience · NLCharles University · CZTrinity College Dublin · IEUniversity of Trieste · ITUniversity of Zurich · CHAmsterdam University Medical Centers · NLCentre Hospitalier Universitaire de Lille · FRCopenhagen University Hospital · DKDiponegoro University · IDErasmus MC · NLIRCCS Materno Infantile Burlo Garofolo · ITKU Leuven · BERotterdam Eye Hospital · NLTechnion – Israel Institute of Technology · ILUniversity Medical Center Groningen · NLUniversity of Copenhagen · DKUniversity of Toronto · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of
Indexed as
Retinitis PigmentosaUsher SyndromesExtracellular Matrix ProteinsHumansMutationPedigreeRNA PrecursorsWhole Genome SequencingExtracellular Matrix ProteinsRNA PrecursorsUSH2A protein, humanantisense oligonucleotidesminigene splice assayphotoreceptor precursor cellspseudoexonretinitis pigmentosasplicingUSH2AusherinUsher syndromewhole genome sequencing
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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.