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Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

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Title: Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.
Authors: Hussain HMJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Meng W; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA., Li Y; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA., Firasat S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Pennesi ME; Retina Foundation of the Southwest, Southwest, Dallas, Texas, USA.; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Gorin MB; Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California, USA.; Department of Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Clark RL; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Fale-Olsen E; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Al Rawi R; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Agather A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Yang P; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Matynia A; College of Optometry, University of Houston, Houston, Texas, USA., Chen R; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA ruic20@hs.uci.edu.
Source: Journal of medical genetics [J Med Genet] 2025 Oct 20; Vol. 62 (11), pp. 693-699. Date of Electronic Publication: 2025 Oct 20.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
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  Data: Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.
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  Data: <searchLink fieldCode="AU" term="%22Hussain+HMJ%22">Hussain HMJ</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Meng+W%22">Meng W</searchLink>; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA.<br /><searchLink fieldCode="AU" term="%22Firasat+S%22">Firasat S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Pennesi+ME%22">Pennesi ME</searchLink>; Retina Foundation of the Southwest, Southwest, Dallas, Texas, USA.; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Gorin+MB%22">Gorin MB</searchLink>; Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California, USA.; Department of Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Guan+B%22">Guan B</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Clark+RL%22">Clark RL</searchLink>; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Fale-Olsen+E%22">Fale-Olsen E</searchLink>; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Al+Rawi+R%22">Al Rawi R</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Agather+A%22">Agather A</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Huryn+LA%22">Huryn LA</searchLink>; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Yang+P%22">Yang P</searchLink>; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Matynia+A%22">Matynia A</searchLink>; College of Optometry, University of Houston, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Chen+R%22">Chen R</searchLink>; Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA ruic20@hs.uci.edu.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2025 Oct 20; Vol. 62 (11), pp. 693-699. <i>Date of Electronic Publication: </i>2025 Oct 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1136/jmg-2025-110681
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