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Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.

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Title: Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.
Authors: Lin LL; Department of Obstetrics and Gynaecology, Taichung Veterans General Hospital, Taichung, Taiwan.; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan., Chien PM; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan., Hsiao TH; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan., Ye HY; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan., Liu SH; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan., Ko TM; Genephile Bioscience Laboratory, Ko's Obstetrics and Gynaecology, Taipei, Taiwan., Huang CH; Genephile Bioscience Laboratory, Ko's Obstetrics and Gynaecology, Taipei, Taiwan., Chen PL; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chen WC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chou YT; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Wu CS; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chen HH; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Chien YH; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Paediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Hsu JS; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. jacobhsu@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan. jacobhsu@ntu.edu.tw.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Oct 29; Vol. 10 (1), pp. 69. Date of Electronic Publication: 2025 Oct 29.
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: Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.
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  Data: <searchLink fieldCode="AU" term="%22Lin+LL%22">Lin LL</searchLink>; Department of Obstetrics and Gynaecology, Taichung Veterans General Hospital, Taichung, Taiwan.; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chien+PM%22">Chien PM</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsiao+TH%22">Hsiao TH</searchLink>; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Ye+HY%22">Ye HY</searchLink>; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Liu+SH%22">Liu SH</searchLink>; Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Ko+TM%22">Ko TM</searchLink>; Genephile Bioscience Laboratory, Ko's Obstetrics and Gynaecology, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+CH%22">Huang CH</searchLink>; Genephile Bioscience Laboratory, Ko's Obstetrics and Gynaecology, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+WC%22">Chen WC</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chou+YT%22">Chou YT</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wu+CS%22">Wu CS</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+HH%22">Chen HH</searchLink>; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chien+YH%22">Chien YH</searchLink>; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Paediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+JS%22">Hsu JS</searchLink>; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. jacobhsu@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan. jacobhsu@ntu.edu.tw.
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