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Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

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Title: Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Authors: Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Gupta P; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Price C; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Han J; Department of Ophthalmology, Gangnam Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Republic of Korea., Navarro J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Place EM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Mukai S; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Zanlonghi X; Centre de compétence maladies rares, Service d'Ophtalmologie, CHU Rennes, Rennes, France., Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS, CIC 1423, Paris, France.; Vision Institute, University of Pittsburgh Medical Center and School of Medicine, Pittsburgh, PA, USA., DiTroia S; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., O'Heir E; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Duncan JL; Department of Ophthalmology, University of California, San Francisco, CA, USA., Pierce EA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France. isabelle.audo@inserm.fr.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS, CIC 1423, Paris, France. isabelle.audo@inserm.fr., Huckfeldt RM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. kinga_bujakowska@meei.harvard.edu.
Source: NPJ genomic medicine [NPJ Genom Med] 2024 Nov 08; Vol. 9 (1), pp. 58. Date of Electronic Publication: 2024 Nov 08.
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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  Data: Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
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  Data: <searchLink fieldCode="AU" term="%22Sangermano+R%22">Sangermano R</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Gupta+P%22">Gupta P</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Price+C%22">Price C</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Han+J%22">Han J</searchLink>; Department of Ophthalmology, Gangnam Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Navarro+J%22">Navarro J</searchLink>; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22Condroyer+C%22">Condroyer C</searchLink>; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22Place+EM%22">Place EM</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Antonio+A%22">Antonio A</searchLink>; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mukai+S%22">Mukai S</searchLink>; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zanlonghi+X%22">Zanlonghi X</searchLink>; Centre de compétence maladies rares, Service d'Ophtalmologie, CHU Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Sahel+JA%22">Sahel JA</searchLink>; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS, CIC 1423, Paris, France.; Vision Institute, University of Pittsburgh Medical Center and School of Medicine, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22DiTroia+S%22">DiTroia S</searchLink>; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Duncan+JL%22">Duncan JL</searchLink>; Department of Ophthalmology, University of California, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pierce+EA%22">Pierce EA</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zeitz+C%22">Zeitz C</searchLink>; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.<br /><searchLink fieldCode="AU" term="%22Audo+I%22">Audo I</searchLink>; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France. isabelle.audo@inserm.fr.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS, CIC 1423, Paris, France. isabelle.audo@inserm.fr.<br /><searchLink fieldCode="AU" term="%22Huckfeldt+RM%22">Huckfeldt RM</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bujakowska+KM%22">Bujakowska KM</searchLink>; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. kinga_bujakowska@meei.harvard.edu.
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