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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.
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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  Data: Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
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  Data: <searchLink fieldCode="AU" term="%22Lee+S%22">Lee S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+SY%22">Kim SY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jang+SS%22">Jang SS</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+S%22">Jang S</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Choi+S%22">Choi S</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Chin+H%22">Chin H</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+SJ%22">Lee SJ</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Oh+DE%22">Oh DE</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Ryu+SW%22">Ryu SW</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Moon+D%22">Moon D</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+S%22">Jang S</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lim+BC%22">Lim BC</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Moon+J%22">Moon J</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Neurology, Seoul National University Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Han+H%22">Han H</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; 3billion Inc., Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; 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.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
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