ArticleBiomolecules2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
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Article in Biomolecules, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
3.8field-weighted citation impact, top 7% of its field
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- Improving personalised genetic counselling forMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.Scientific reports · 2025Article
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
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Authors and funding
60 authors at 20 institutions in 24 countries.
Rebekkah J Hitti-MalinDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0002-7873-2880
Daan M PannemanDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Zelia CorradiDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0002-2934-497X
Erica G M BoonenDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0003-1509-3150
Galuh AstutiDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Claire-Marie DhaenensUniv. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.ORCID 0000-0003-4719-4124
Heidi StöhrInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-1508-0731
Bernhard H F WeberInstitute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-8808-7723
Dror SharonDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.ORCID 0000-0002-1789-5811
Eyal BaninDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
Marianthi KaraliDepartment of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.ORCID 0000-0003-0757-3330
Sandro BanfiDepartment of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.ORCID 0000-0002-6541-8833
Tamar Ben-YosefRuth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
Damjan GlavačDepartment of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0001-9912-3331
G Jane FarrarThe School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland.
Carmen AyusoDepartment of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.ORCID 0000-0002-9242-7065
Petra LiskovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.ORCID 0000-0001-7834-8486
Lubica DudakovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.ORCID 0000-0003-4718-8955
Marie VajterDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.ORCID 0000-0002-9590-9633
Monika OłdakDepartment of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland.ORCID 0000-0002-4216-9141
Jacek P SzaflikDepartment of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland.
Anna MatyniaCollege of Optometry, University of Houston, Houston, TX 77004, USA.
Michael B GorinJules Stein Eye Institute, Los Angeles, CA 90095, USA.ORCID 0000-0001-9498-7982
Kati KämpjärviBlueprint Genetics, 02150 Espoo, Finland.
Miriam BauwensDepartment of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.ORCID 0000-0003-0402-9006
Elfride De BaereDepartment of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.ORCID 0000-0002-5609-6895
Carel B HoyngDepartment of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Catherina H Z LiDepartment of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Caroline C W KlaverDepartment of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Chris F InglehearnDivision of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK.ORCID 0000-0002-5143-2562
Kaoru FujinamiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland.ORCID 0000-0002-0733-9950
Rando AllikmetsDepartment of Ophthalmology, Columbia University, New York, NY 10027, USA.
Jana ZernantDepartment of Ophthalmology, Columbia University, New York, NY 10027, USA.
Winston LeeDepartment of Ophthalmology, Columbia University, New York, NY 10027, USA.
Osvaldo L PodhajcerLaboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina.
Ana FakinEye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Jana SajovicEye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0002-1982-7572
Alaa AlTalbishiSt John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine.
Sandra ValeinaDepartment of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.
Gita TaurinaChildren's Clinical University Hospital, LV-1004 Riga, Latvia.
Andrea L VincentDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.ORCID 0000-0002-4185-3267
Lisa RobertsUniversity of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0001-6766-0255
Raj RamesarUniversity of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.ORCID 0000-0001-5688-1634
Giovanna SartorDepartment of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy.
Elena LuppiDepartment of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.ORCID 0000-0001-5893-0655
Susan M DownesNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.ORCID 0000-0001-7373-2665
L Ingeborgh van den BornThe Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands.
Terri L McLarenAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.ORCID 0000-0003-3195-669X
John N De RoachAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Tina M LameyAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.ORCID 0000-0002-4608-4073
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.ORCID 0000-0003-3553-6457
Fred K ChenCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.ORCID 0000-0003-2809-9930
Anna M TracewskaDatana Solutions, 54-530 Wroclaw, Poland.
Smaragda KamakariOphthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece.
Juliana Maria Ferraz SallumDepartment of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.ORCID 0000-0002-7206-4447
Hanno J BolzInstitute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany.
Hülya KayseriliDepartment of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey.ORCID 0000-0003-0376-499X
Susanne RoosingDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0001-9038-0067
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Radboud University Nijmegen · NLThe University of Western Australia · AUCharles University · CZColumbia University · USUniversity of Ljubljana · SIChildren's Clinical University Hospital · LVGhent University Hospital · BEHebrew University of Jerusalem · ILMedical University of Warsaw · PLUniversity of Campania "Luigi Vanvitelli" · ITUniversity of Cape Town · ZAAzienda USL di Bologna · ITBlueprint Genetics (Finland) · FIConsejo Nacional de Investigaciones Científicas y Técnicas · ARInserm · FRInstitute of Molecular and Clinical Ophthalmology Basel · CHInstituto de Salud Carlos III · ESJikei University School of Medicine · JPKoç University · TRNeurological Institute of Athens · GR
Funding
Vision Research Core at UCLAP30EY000331 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Xian-Jie Yang · 1985 to 2026
$16.8MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MPrecision medicine for ABCA4 disease: modifier allelesR01EY028203 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2018 to 2021
$2.3MIntegrated clinical, genetic and functional analysis of the ABCA4 locusR01EY029315 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2019 to 2023
$2.2MStargardt disease with low lipofuscinR01EY028954 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2019 to 2022
$2.1MNEI NIH HHS P30 EY000331NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY028203NEI NIH HHS R01 EY028954NEI NIH HHS R01 EY029315
Abstract
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were
Indexed as
Macular DegenerationATP-Binding Cassette TransportersCadherin Related ProteinsEye ProteinsHumansMutationNerve Tissue ProteinsPedigreePenetrancePhenotypeRetinaABCA4 protein, humanATP-Binding Cassette TransportersCadherin Related ProteinsCDHR1 protein, humanEye ProteinsNerve Tissue ProteinsRP1L1 protein, humaninheritedmaculamaculopathiespenetranceretinalsequencing
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