ArticleFrontiers in cell and developmental biology2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
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Article in Frontiers in cell and developmental biology, 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
4.0field-weighted citation impact, top 6% of its field
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Who cites it
20 citing papers in PubMed, 26 citations in OpenAlex.
- De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Nature genetics · 2026Article
- The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.Genetics in medicine open · 2026Article
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- Cone Rod Homeobox (Ophthalmic genetics · 2025Review
- Bilateral Sector Macular Dystrophy Associated withJournal of clinical medicine · 2025Article
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- Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.Investigative ophthalmology & visual science · 2025Article
- Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.Molecular vision · 2025Article
- Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.Human mutation · 2025Article
- A Leaky Deep Intronic Splice Variant inGenes · 2024Article
- Novel and Recurrent Copy Number Variants inInternational journal of molecular sciences · 2024Article
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant inCurrent issues in molecular biology · 2024Article
- Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.Frontiers in genetics · 2024Article
- [Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].Die Ophthalmologie · 2023Article
- Whole genome sequencing forHGG advances · 2023Article
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- Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.Molecular vision · 2023Article
- Compendium of Clinical Variant Classification for 2,246 UniqueHuman mutation · 2023Article
Corrections and comments
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Authors and funding
48 authors at 20 institutions in 12 countries.
Daan M PannemanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Rebekkah J Hitti-MalinDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Lara K HoltesDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Suzanne E de BruijnDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Janine ReurinkDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Erica G M BoonenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Muhammad Imran KhanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Manir AliDivision of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.
Sten AndréassonDepartment of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden.
Elfride De BaereDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Sandro BanfiTelethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Miriam BauwensDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Tamar Ben-YosefRappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Béatrice BocquetNational Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, Montpellier, France.
Marieke De BruyneDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Berta de la CerdaAndalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), Seville, Spain.
Frauke CoppietersDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Pietro FarinelliDepartment of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Thomas GuignardChromosomal Genetics Unit, University Hospital of Montpellier, Montpellier, France.
Chris F InglehearnDivision of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.
Marianthi KaraliDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Ulrika KjellströmDepartment of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden.
Robert KoenekoopMcGill University Health Center (MUHC) Research Institute, Montreal, QC, Canada.
Bart de KoningDepartment of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, Netherlands.
Bart P LeroyDepartment of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Martin McKibbinDivision of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.
Isabelle MeunierNational Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, Montpellier, France.
Konstantinos NikopoulosLaboratory of molecular diagnostics, UNILABS SA, Lausanne, Switzerland.
Koji M NishiguchiDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
James A PoulterDivision of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.
Enrique Rodríguez de la RúaDepartment of Ophthalmology, Retics Patologia Ocular, OFTARED, Instituto de Salud Carlos III, University Hospital Virgen Macarena, Madrid, Spain.
Patrick SaundersMolecular Loop Biosciences Inc., Woburn, MA, United States.
Francesca SimonelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
Yasmin TatourRappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Francesco TestaEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
Alberta A H J ThiadensDepartment of Ophthalmology, Erasmus, Rotterdam, Netherlands.
Carmel ToomesDivision of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.
Anna M TracewskaDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Hoai Viet TranOculogenetic Unit, University Eye Hospital Jules Gonin, Geneva, Switzerland.
Hiroaki UshidaDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Veronika VaclavikOculogenetic Unit, University Eye Hospital Jules Gonin, Geneva, Switzerland.
Virginie J M VerhoevenDepartment of Ophthalmology, Erasmus, Rotterdam, Netherlands.
Maartje van de VorstDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Alexander HoischenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Radboud University Medical Center · NLRadboud University Nijmegen · NLUniversity of Campania "Luigi Vanvitelli" · ITGhent University · BEUniversity of Leeds · GBCentre Hospitalier Universitaire de Montpellier · FRErasmus University Rotterdam · NLGhent University Hospital · BEHôpital Ophtalmique Jules-Gonin · CHLund University · SENagoya University · JPSt James's University Hospital · GBTechnion – Israel Institute of Technology · ILCentro Andaluz de Biología Molecular y Medicina Regenerativa · ESInserm · FRInstitute of Molecular and Clinical Ophthalmology Basel · CHInstituto de Salud Carlos III · ESMaastricht University · NLMcGill University Health Centre · CARadboud Institute for Molecular Life Sciences · NL
Funding
No grant is acknowledged in the PubMed record.
Abstract
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Indexed as
cost-effectivehigh-throughputinherited retinal diseasessmMIPstargeted gene sequencing
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