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From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.

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Title: From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Authors: Huang YS; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan., Lin CY; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Computing and Data Sciences, Boston University, Boston, Massachusetts, USA., Chen YA; Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Zhubei City, 302058, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan., Lee CY; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan., Yang CH; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei, Taiwan., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan., Chen TC; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw., Chen PL; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. paylong@ntu.edu.tw.
Source: Human genomics [Hum Genomics] 2026 Feb 15; Vol. 20 (1). Date of Electronic Publication: 2026 Feb 15.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
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  Data: <searchLink fieldCode="AU" term="%22Huang+YS%22">Huang YS</searchLink>; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+CY%22">Lin CY</searchLink>; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Computing and Data Sciences, Boston University, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Chen+YA%22">Chen YA</searchLink>; Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Zhubei City, 302058, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lee+CY%22">Lee CY</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Yang+CH%22">Yang CH</searchLink>; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+JS%22">Hsu JS</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+TC%22">Chen TC</searchLink>; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. paylong@ntu.edu.tw.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2026 Feb 15; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 Feb 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s40246-026-00923-0
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        Text: English
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              Text: 2026 Feb 15
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