Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
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| Title: | Variants in CFAP410 cause a range of retinal and skeletal phenotypes. |
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| Authors: | Schmidt RE; Casey Eye Institute, Oregon Health Science University, Portland, OR, USA., Pohodich AE; Casey Eye Institute, Oregon Health Science University, Portland, OR, USA., Birch D; Retina Foundation of the Southwest, Dallas, TX, USA., Jones K; Retina Foundation of the Southwest, Dallas, TX, USA., Lam BL; Bascom Palmer Eye Institute, University of Miami, Miami, FL, USA., Jung EH; Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA., Jain N; Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA., Georgiou M; UCL Institute of Ophthalmology, University College London, London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, London, UK., Mahroo OA; UCL Institute of Ophthalmology, University College London, London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, London, UK., Webster AR; UCL Institute of Ophthalmology, University College London, London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, London, UK., Michaelides M; UCL Institute of Ophthalmology, University College London, London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, London, UK., Bakall B; Associated Retina Consultants, Phoenix, AZ, USA.; University of Arizona, College of Medicine-Phoenix, Phoenix, AZ, USA., Iannaccone A; Duke Eye Center, Duke University School of Medicine, Durham, NC, USA.; Ophthalmology Astellas Pharma US, Northbrook, IL, USA.; Kittner Eye Center, University of North Carolina Chapel Hill, Chapel Hill, NC, USA., Vincent A; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children; University of Toronto, Toronto, ON, Canada., Parameswarappa DC; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children; University of Toronto, Toronto, ON, Canada., Heon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children; University of Toronto, Toronto, ON, Canada., Scholl HPN; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Janeschitz-Kriegl L; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA., Zein W; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Cukras C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Hufnagel R; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Aleman TS; Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Sylla MM; Department of Ophthalmology, Colombia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA., Tsang SH; Department of Ophthalmology, Colombia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA., Alabek M; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Sahel J; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Gorin MB; Department of Ophthalmology and Human Genetics, University of California, Los Angeles, CA, USA., van Genderen MM; Department of Ophthalmology University Medical Center Utrecht, Utrecht, The Netherlands.; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands., Stingl K; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Reith M; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Kohl S; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Amaral RAS; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil., Sallum JMF; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Te Toka Tumai Auckland, Te Whatu Ora-Health New Zealand, Auckland, New Zealand., Hull S; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Te Toka Tumai Auckland, Te Whatu Ora-Health New Zealand, Auckland, New Zealand., Duncan JL; Department of Ophthalmology, University of California, San Francisco, CA, USA., Hanson JVM; Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland., Tedeus M; Schulthess Clinic, Zurich, Switzerland., Maggi J; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland., Graf U; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland., Koller S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland., Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Zurich, Switzerland., Gerth-Kahlert C; Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland., Marra M; Casey Eye Institute, Oregon Health Science University, Portland, OR, USA., Everett LA; Casey Eye Institute, Oregon Health Science University, Portland, OR, USA., Yang P; Casey Eye Institute, Oregon Health Science University, Portland, OR, USA., Pennesi ME; Casey Eye Institute, Oregon Health Science University, Portland, OR, USA. pennesim@ohsu.edu.; Retina Foundation of the Southwest, Dallas, TX, USA. pennesim@ohsu.edu. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Apr 17; Vol. 10 (1), pp. 32. Date of Electronic Publication: 2025 Apr 17. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-025-00489-1 |
