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. |
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| 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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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-025-00524-1 |
