Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
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| Title: | Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families. |
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| Authors: | Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Seo GH; 3billion Inc., Seoul, Korea., Kim SY; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Jang SS; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Jang S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Choi S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Chin H; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Lee SJ; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Oh DE; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Ryu SW; 3billion Inc., Seoul, Korea., Kim J; 3billion Inc., Seoul, Korea., Moon D; 3billion Inc., Seoul, Korea., Jang S; 3billion Inc., Seoul, Korea., Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Moon J; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Neurology, Seoul National University Hospital, Seoul, Korea., Han H; 3billion Inc., Seoul, Korea., Lee H; 3billion Inc., Seoul, Korea., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea. chaeped1@snu.ac.kr.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea. chaeped1@snu.ac.kr. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Dec 08; Vol. 11 (1), pp. 2. Date of Electronic Publication: 2025 Dec 08. |
| 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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