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Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

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Title: Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.
Authors: Ehrenberg M; Department of Ophthalmology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Avraham M; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Asodu SS; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Moye AR; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland., Sangermano R; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA., Rizel L; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Ali-Nasser T; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Sher I; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel., Gurwitz D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel., Chao KR; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Rivera A; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and The Institute of Ophthalmology, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom., Newman H; Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Pras E; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Ophthalmology Department, Shamir Medical Center, Zerifin, Israel., Rotenstreich Y; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel., Banin E; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA., Zur D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and The Institute of Ophthalmology, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom; Greenwood Genetic Center, Greenwood, SC., Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA., Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and The Institute of Ophthalmology, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom., Sharon D; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Ben-Yosef T; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address: benyosef@technion.ac.il.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101401. Date of Electronic Publication: 2025 Mar 10.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Ehrenberg+M%22">Ehrenberg M</searchLink>; Department of Ophthalmology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Avraham+M%22">Avraham M</searchLink>; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Asodu+SS%22">Asodu SS</searchLink>; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Moye+AR%22">Moye AR</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Sangermano+R%22">Sangermano R</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Rizel+L%22">Rizel L</searchLink>; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Ali-Nasser+T%22">Ali-Nasser T</searchLink>; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Sher+I%22">Sher I</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Gurwitz+D%22">Gurwitz D</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Chao+KR%22">Chao KR</searchLink>; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Rivera+A%22">Rivera A</searchLink>; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and The Institute of Ophthalmology, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Newman+H%22">Newman H</searchLink>; Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Pras+E%22">Pras E</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Ophthalmology Department, Shamir Medical Center, Zerifin, Israel.<br /><searchLink fieldCode="AU" term="%22Rotenstreich+Y%22">Rotenstreich Y</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Banin+E%22">Banin E</searchLink>; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Pierce+EA%22">Pierce EA</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Zur+D%22">Zur D</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel; Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and The Institute of Ophthalmology, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom; Greenwood Genetic Center, Greenwood, SC.<br /><searchLink fieldCode="AU" term="%22Bujakowska+KM%22">Bujakowska KM</searchLink>; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and The Institute of Ophthalmology, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sharon+D%22">Sharon D</searchLink>; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Ben-Yosef+T%22">Ben-Yosef T</searchLink>; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address: benyosef@technion.ac.il.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101401. <i>Date of Electronic Publication: </i>2025 Mar 10.
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