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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

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Title: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Authors: Quinodoz M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK., Rodenburg K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Cvackova Z; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic., Kaminska K; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands., Iglesias-Romero AB; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands., Ullah M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland., Zomer N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Folcher M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Bijon J; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France., Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Tsang SH; Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA.; Edward S. Harkness Eye Institute, Jonas Children's Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA., Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Freund KB; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA., Shliaga S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK., AlTalbishi A; Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine., Andréasson S; Department of Ophthalmology, University Hospital of Lund, Lund, Sweden., Ansari G; Department of Ophthalmology, University of Basel, Basel, Switzerland., Arno G; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA.; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Ayyagari R; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA., Banfi S; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Banin E; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Barboni MTS; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Bauwens M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Bernard V; GCS Auragen, Plan France Medecine Genomique, Lyon, France., Birch DG; Retina Foundation of the Southwest, Dallas, TX, USA., Biswas P; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA., Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Bocquet B; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France., Boon CJF; Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands., Branham K; Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA., Bremond-Gignac D; Department of Ophthalmology, University Hospital Necker Enfants Malades, APHP, Paris Cité University, Paris, France.; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France., Britten-Jones AC; Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia., Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Burin des Roziers C; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France., Cadena EL; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Calzetti G; Vista Vision Eye Clinic, Brescia, Italy.; Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland., Cancellieri F; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Cattaneo L; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Chadderton N; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland., Charbel Issa P; Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Coutinho-Santos L; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal., Daiger SP; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Bruyne M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., de la Cerda B; Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain., De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia., De Zaeytijd J; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Dhaenens CM; Université de Lille, INSERM U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Duncan JL; Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA., Farrar GJ; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland., Feltgen N; Department of Ophthalmology, University of Basel, Basel, Switzerland., Fenner BJ; Department of Medical Retina, Singapore National Eye Centre, Singapore, Singapore.; Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore.; Singapore Eye Research Institute, Singapore, Singapore., Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Ferraz Sallum JM; Department of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, Brazil., Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Gardner JC; UCL Institute of Ophthalmology, University College London, London, UK., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Gonzàlez-Duarte R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain., Goto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Griffiths-Jones S; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK., Haack TB; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Ghana, South Africa., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, UK., Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan., Héon E; Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Holtan JP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Ibanez MBB 4th; Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Philippines.; Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK., Iwata T; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan., Jensson BO; deCODE genetics, Amgen Inc., Reykjavik, Iceland., Jones K; Retina Foundation of the Southwest, Dallas, TX, USA., Kalatzis V; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France., Kamakari S; Department of Inherited Retinal Dystrophies, Ophthalmic Genetics Group, OMMA, Ophthalmological Institute of Athens, Athens, Greece., Karali M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Kellner U; Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Knézy K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Koenekoop RK; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Kominami T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kühlewein L; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia., Leibu R; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel., Leroy BP; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lopez I; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada., López-Rodríguez VRJ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Mahieu Q; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Mahroo OA; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, UK.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK., Manes G; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France., Mansard L; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; Molecular Genetics Laboratory, Montpellier University, CHU Montpellier, Montpellier, France., Martín-Gutiérrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain., Martins N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Mauring L; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK., McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia., Meunier I; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France., Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK., Millán JM; Instituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain., Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan., Mukherjee R; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK., Nagy ZZ; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland., Oorsprong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pan Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan., Papachristou A; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece., Percesepe A; Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy., Pfau M; Department of Ophthalmology, University of Basel, Basel, Switzerland., Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Place E; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Ramesar R; UCT/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, South Africa., Ramond F; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Department of Medical Genetics, Saint-Etienne University Hospital, Saint-Etienne, France., Rasquin FA; Department of Ophthalmology, HUB-Erasme Hospital, Brussels, Belgium., Rice GI; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK., Roberts L; UCT/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, South Africa., Rodríguez-Hidalgo M; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain., Ruiz-Ederra J; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Ophthalmology, University of the Basque Country (UPV/EHU), San Sebastián, Spain., Sabir AH; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Sajiki AF; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sarma AS; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel., Sangermano R; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Santos CM; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal., Scarpato M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Scholl HPN; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.; Pallas Kliniken AG, Pallas Klinik Zürich, Zürich, Switzerland.; European Vision Institute, Basel, Switzerland., Sharon D; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel., Signorini SG; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Sousa AB; Department of Medical Genetics, ULS Santa Maria, Lisboa, Portugal.; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal., Stefaniotou M; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece., Stefansson K; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Stingl K; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Suga A; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan., Sulem P; deCODE genetics, Amgen Inc., Reykjavik, Iceland., Sullivan LS; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Szabó V; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.; SPKSO Ophthalmic University Hospital in Warsaw, Warsaw, Poland., Taurina G; Medical Genetics and Prenatal Diagnostics Clinic, Children's Clinical University Hospital, Riga, Latvia., Thiadens AAHJ; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK., Tran VH; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland.; Centre for Gene Therapy & Regenerative Medicine, King's College London, London, UK., Tsilimbaris MK; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece., Tsoka P; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece., Vaclavik V; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland., Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Valeina S; Eye Disease Clinic, Children's University Hospital Riga, Riga, Latvia., Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Valentine C; UCT/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, South Africa., Valero R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain., Valleix S; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France., van Aerschot J; Department of Ophthalmology, Pediatric Ophthalmology and Ophthalmogenetics, University Hospitals Leuven, Leuven, Belgium., van den Born LI; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands., Van Heetvelde M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Verhoeven VJM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, University of Auckland, Auckland, New Zealand., Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK., Whelan L; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; School of Pharmacy and Biomolecular Sciences (PBS), RCSI University of Medicine and Health Sciences, Dublin, Ireland.; FutureNeuro Research Ireland Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland., Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Yioti GG; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece., Yoshitake K; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico., Zeuli R; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Zuleger T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany., Landau C; Bonei Olam - Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA., Jacob AI; Physicians Dialysis, Miami, FL, USA., Lin S; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Lee W; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA., Ellingford JM; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Genomics England Ltd, London, UK., Stanek D; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. susanne.roosing@radboudumc.nl., Rivolta C; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.
Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 169-179. Date of Electronic Publication: 2026 Jan 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
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  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Quinodoz+M%22">Quinodoz M</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.<br /><searchLink fieldCode="AU" term="%22Rodenburg+K%22">Rodenburg K</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Cvackova+Z%22">Cvackova Z</searchLink>; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Kaminska+K%22">Kaminska K</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22de+Bruijn+SE%22">de Bruijn SE</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Iglesias-Romero+AB%22">Iglesias-Romero AB</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Boonen+EGM%22">Boonen EGM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ullah+M%22">Ullah M</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Zomer+N%22">Zomer N</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Folcher+M%22">Folcher M</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bijon+J%22">Bijon J</searchLink>; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Holtes+LK%22">Holtes LK</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Tsang+SH%22">Tsang SH</searchLink>; Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA.; Edward S. Harkness Eye Institute, Jonas Children's Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Corradi+Z%22">Corradi Z</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Freund+KB%22">Freund KB</searchLink>; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Shliaga+S%22">Shliaga S</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Panneman+DM%22">Panneman DM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hitti-Malin+RJ%22">Hitti-Malin RJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ali+M%22">Ali M</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22AlTalbishi+A%22">AlTalbishi A</searchLink>; Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine.<br /><searchLink fieldCode="AU" term="%22Andréasson+S%22">Andréasson S</searchLink>; Department of Ophthalmology, University Hospital of Lund, Lund, Sweden.<br /><searchLink fieldCode="AU" term="%22Ansari+G%22">Ansari G</searchLink>; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA.; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Astuti+GDN%22">Astuti GDN</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ayyagari+R%22">Ayyagari R</searchLink>; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Banfi+S%22">Banfi S</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Banin+E%22">Banin E</searchLink>; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Barboni+MTS%22">Barboni MTS</searchLink>; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Bauwens+M%22">Bauwens M</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Ben-Yosef+T%22">Ben-Yosef T</searchLink>; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Bernard+V%22">Bernard V</searchLink>; GCS Auragen, Plan France Medecine Genomique, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Birch+DG%22">Birch DG</searchLink>; Retina Foundation of the Southwest, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Biswas+P%22">Biswas P</searchLink>; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bocquet+B%22">Bocquet B</searchLink>; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Boon+CJF%22">Boon CJF</searchLink>; Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Branham+K%22">Branham K</searchLink>; Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Bremond-Gignac+D%22">Bremond-Gignac D</searchLink>; Department of Ophthalmology, University Hospital Necker Enfants Malades, APHP, Paris Cité University, Paris, France.; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.<br /><searchLink fieldCode="AU" term="%22Britten-Jones+AC%22">Britten-Jones AC</searchLink>; Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Bujakowska+KM%22">Bujakowska KM</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Burin+des+Roziers+C%22">Burin des Roziers C</searchLink>; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cadena+EL%22">Cadena EL</searchLink>; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Calzetti+G%22">Calzetti G</searchLink>; Vista Vision Eye Clinic, Brescia, Italy.; Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Cancellieri+F%22">Cancellieri F</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Cattaneo+L%22">Cattaneo L</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Chadderton+N%22">Chadderton N</searchLink>; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Charbel+Issa+P%22">Charbel Issa P</searchLink>; Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Coutinho-Santos+L%22">Coutinho-Santos L</searchLink>; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Daiger+SP%22">Daiger SP</searchLink>; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22De+Baere+E%22">De Baere E</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Bruyne+M%22">De Bruyne M</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22de+la+Cerda+B%22">de la Cerda B</searchLink>; Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain.<br /><searchLink fieldCode="AU" term="%22De+Roach+JN%22">De Roach JN</searchLink>; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22De+Zaeytijd+J%22">De Zaeytijd J</searchLink>; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Derks+R%22">Derks R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Dhaenens+CM%22">Dhaenens CM</searchLink>; Université de Lille, INSERM U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France.<br /><searchLink fieldCode="AU" term="%22Dudakova+L%22">Dudakova L</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Duncan+JL%22">Duncan JL</searchLink>; Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Farrar+GJ%22">Farrar GJ</searchLink>; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Feltgen+N%22">Feltgen N</searchLink>; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Fenner+BJ%22">Fenner BJ</searchLink>; Department of Medical Retina, Singapore National Eye Centre, Singapore, Singapore.; Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore.; Singapore Eye Research Institute, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Fernández-Caballero+L%22">Fernández-Caballero L</searchLink>; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ferraz+Sallum+JM%22">Ferraz Sallum JM</searchLink>; Department of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Gana+S%22">Gana S</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Garanto+A%22">Garanto A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gardner+JC%22">Gardner JC</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gonzàlez-Duarte+R%22">Gonzàlez-Duarte R</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Goto+K%22">Goto K</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Griffiths-Jones+S%22">Griffiths-Jones S</searchLink>; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Ghana, South Africa.<br /><searchLink fieldCode="AU" term="%22Haer-Wigman+L%22">Haer-Wigman L</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hardcastle+AJ%22">Hardcastle AJ</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Hayashi+T%22">Hayashi T</searchLink>; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan.<br /><searchLink fieldCode="AU" term="%22Héon+E%22">Héon E</searchLink>; Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hoefsloot+LH%22">Hoefsloot LH</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Holtan+JP%22">Holtan JP</searchLink>; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Hoyng+CB%22">Hoyng CB</searchLink>; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ibanez+MBB+4th%22">Ibanez MBB 4th</searchLink>; Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Philippines.; Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines.<br /><searchLink fieldCode="AU" term="%22Inglehearn+CF%22">Inglehearn CF</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Iwata+T%22">Iwata T</searchLink>; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Jensson+BO%22">Jensson BO</searchLink>; deCODE genetics, Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Jones+K%22">Jones K</searchLink>; Retina Foundation of the Southwest, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kalatzis+V%22">Kalatzis V</searchLink>; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Kamakari+S%22">Kamakari S</searchLink>; Department of Inherited Retinal Dystrophies, Ophthalmic Genetics Group, OMMA, Ophthalmological Institute of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Karali+M%22">Karali M</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Kellner+U%22">Kellner U</searchLink>; Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.<br /><searchLink fieldCode="AU" term="%22Klaver+CCW%22">Klaver CCW</searchLink>; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Knézy+K%22">Knézy K</searchLink>; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Koenekoop+RK%22">Koenekoop RK</searchLink>; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kominami+T%22">Kominami T</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Kühlewein+L%22">Kühlewein L</searchLink>; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lamey+TM%22">Lamey TM</searchLink>; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Leibu+R%22">Leibu R</searchLink>; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Leroy+BP%22">Leroy BP</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Liskova+P%22">Liskova P</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lopez+I%22">Lopez I</searchLink>; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22López-Rodríguez+VRJ%22">López-Rodríguez VRJ</searchLink>; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Mahieu+Q%22">Mahieu Q</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Mahroo+OA%22">Mahroo OA</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, UK.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Manes+G%22">Manes G</searchLink>; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Mansard+L%22">Mansard L</searchLink>; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; Molecular Genetics Laboratory, Montpellier University, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Martín-Gutiérrez+MP%22">Martín-Gutiérrez MP</searchLink>; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martins+N%22">Martins N</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Mauring+L%22">Mauring L</searchLink>; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22McKibbin+M%22">McKibbin M</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22McLaren+TL%22">McLaren TL</searchLink>; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Meunier+I%22">Meunier I</searchLink>; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Michaelides+M%22">Michaelides M</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Millán+JM%22">Millán JM</searchLink>; Instituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Mizobuchi+K%22">Mizobuchi K</searchLink>; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan.<br /><searchLink fieldCode="AU" term="%22Mukherjee+R%22">Mukherjee R</searchLink>; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Nagy+ZZ%22">Nagy ZZ</searchLink>; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Neveling+K%22">Neveling K</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ołdak+M%22">Ołdak M</searchLink>; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Oorsprong+M%22">Oorsprong M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pan+Y%22">Pan Y</searchLink>; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Papachristou+A%22">Papachristou A</searchLink>; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.<br /><searchLink fieldCode="AU" term="%22Percesepe+A%22">Percesepe A</searchLink>; Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy.<br /><searchLink fieldCode="AU" term="%22Pfau+M%22">Pfau M</searchLink>; Department of Ophthalmology, University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Pierce+EA%22">Pierce EA</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Place+E%22">Place E</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ramesar+R%22">Ramesar R</searchLink>; UCT/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, South Africa.<br /><searchLink fieldCode="AU" term="%22Ramond+F%22">Ramond F</searchLink>; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Department of Medical Genetics, Saint-Etienne University Hospital, Saint-Etienne, France.<br /><searchLink fieldCode="AU" term="%22Rasquin+FA%22">Rasquin FA</searchLink>; Department of Ophthalmology, HUB-Erasme Hospital, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Rice+GI%22">Rice GI</searchLink>; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Roberts+L%22">Roberts L</searchLink>; UCT/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, South Africa.<br /><searchLink fieldCode="AU" term="%22Rodríguez-Hidalgo+M%22">Rodríguez-Hidalgo M</searchLink>; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz-Ederra+J%22">Ruiz-Ederra J</searchLink>; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Ophthalmology, University of the Basque Country (UPV/EHU), San Sebastián, Spain.<br /><searchLink fieldCode="AU" term="%22Sabir+AH%22">Sabir AH</searchLink>; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Sajiki+AF%22">Sajiki AF</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Sánchez-Barbero+AI%22">Sánchez-Barbero AI</searchLink>; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sarma+AS%22">Sarma AS</searchLink>; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Sangermano+R%22">Sangermano R</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Santos+CM%22">Santos CM</searchLink>; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Scarpato+M%22">Scarpato M</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Scholl+HPN%22">Scholl HPN</searchLink>; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.; Pallas Kliniken AG, Pallas Klinik Zürich, Zürich, Switzerland.; European Vision Institute, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Sharon+D%22">Sharon D</searchLink>; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Signorini+SG%22">Signorini SG</searchLink>; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Simonelli+F%22">Simonelli F</searchLink>; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Sousa+AB%22">Sousa AB</searchLink>; Department of Medical Genetics, ULS Santa Maria, Lisboa, Portugal.; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Stefaniotou+M%22">Stefaniotou M</searchLink>; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.<br /><searchLink fieldCode="AU" term="%22Stefansson+K%22">Stefansson K</searchLink>; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Stingl+K%22">Stingl K</searchLink>; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Suga+A%22">Suga A</searchLink>; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Sulem+P%22">Sulem P</searchLink>; deCODE genetics, Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Sullivan+LS%22">Sullivan LS</searchLink>; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Szabó+V%22">Szabó V</searchLink>; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Szaflik+JP%22">Szaflik JP</searchLink>; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.; SPKSO Ophthalmic University Hospital in Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Taurina+G%22">Taurina G</searchLink>; Medical Genetics and Prenatal Diagnostics Clinic, Children's Clinical University Hospital, Riga, Latvia.<br /><searchLink fieldCode="AU" term="%22Thiadens+AAHJ%22">Thiadens AAHJ</searchLink>; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Toomes+C%22">Toomes C</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Tran+VH%22">Tran VH</searchLink>; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland.; Centre for Gene Therapy & Regenerative Medicine, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Tsilimbaris+MK%22">Tsilimbaris MK</searchLink>; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.<br /><searchLink fieldCode="AU" term="%22Tsoka+P%22">Tsoka P</searchLink>; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.<br /><searchLink fieldCode="AU" term="%22Vaclavik+V%22">Vaclavik V</searchLink>; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Vajter+M%22">Vajter M</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Valeina+S%22">Valeina S</searchLink>; Eye Disease Clinic, Children's University Hospital Riga, Riga, Latvia.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valentine+C%22">Valentine C</searchLink>; UCT/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, South Africa.<br /><searchLink fieldCode="AU" term="%22Valero+R%22">Valero R</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Valleix+S%22">Valleix S</searchLink>; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France.<br /><searchLink fieldCode="AU" term="%22van+Aerschot+J%22">van Aerschot J</searchLink>; Department of Ophthalmology, Pediatric Ophthalmology and Ophthalmogenetics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22van+den+Born+LI%22">van den Born LI</searchLink>; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Van+Heetvelde+M%22">Van Heetvelde M</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Verhoeven+VJM%22">Verhoeven VJM</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vincent+AL%22">Vincent AL</searchLink>; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, University of Auckland, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Whelan+L%22">Whelan L</searchLink>; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; School of Pharmacy and Biomolecular Sciences (PBS), RCSI University of Medicine and Health Sciences, Dublin, Ireland.; FutureNeuro Research Ireland Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Wissinger+B%22">Wissinger B</searchLink>; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Yioti+GG%22">Yioti GG</searchLink>; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.<br /><searchLink fieldCode="AU" term="%22Yoshitake+K%22">Yoshitake K</searchLink>; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Zenteno+JC%22">Zenteno JC</searchLink>; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Zeuli+R%22">Zeuli R</searchLink>; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Zuleger+T%22">Zuleger T</searchLink>; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Landau+C%22">Landau C</searchLink>; Bonei Olam - Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA.<br /><searchLink fieldCode="AU" term="%22Jacob+AI%22">Jacob AI</searchLink>; Physicians Dialysis, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Cremers+FPM%22">Cremers FPM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lee+W%22">Lee W</searchLink>; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ellingford+JM%22">Ellingford JM</searchLink>; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Genomics England Ltd, London, UK.<br /><searchLink fieldCode="AU" term="%22Stanek+D%22">Stanek D</searchLink>; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Roosing+S%22">Roosing S</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. susanne.roosing@radboudumc.nl.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 169-179. <i>Date of Electronic Publication: </i>2026 Jan 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Co%22">Nature Pub. Co </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9216904 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1546-1718 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210614036%22">10614036 </searchLink><i>NLM ISO Abbreviation: </i>Nat Genet <i>Subsets: </i>MEDLINE
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      – TitleFull: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
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            – D: 01
              M: 01
              Text: 2026 Jan
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1546-1718
          Numbering:
            – Type: volume
              Value: 58
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature genetics
              Type: main
ResultId 1