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Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

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Title: Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.
Authors: Kim Y; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Jang J; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Ryu KS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea., Ko JM; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea., Kim MJ; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, 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., Lee JS; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea., Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Chae SW; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Lim H; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Lim H; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Sung H; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Youn S; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Lee H; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea., Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. leciel85@snu.ac.kr., Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. mwseong@snu.ac.kr.; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea. mwseong@snu.ac.kr.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 23. Date of Electronic Publication: 2026 Jun 23.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Kim+Y%22">Kim Y</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+J%22">Jang J</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Ryu+KS%22">Ryu KS</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Ko+JM%22">Ko JM</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+MJ%22">Kim MJ</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.<br /><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 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="%22Lee+JS%22">Lee JS</searchLink>; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Cho+SI%22">Cho SI</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Chae+SW%22">Chae SW</searchLink>; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lim+H%22">Lim H</searchLink>; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lim+H%22">Lim H</searchLink>; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Sung+H%22">Sung H</searchLink>; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Youn+S%22">Youn S</searchLink>; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+JS%22">Lee JS</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. leciel85@snu.ac.kr.<br /><searchLink fieldCode="AU" term="%22Seong+MW%22">Seong MW</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. mwseong@snu.ac.kr.; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea. mwseong@snu.ac.kr.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jun 23. <i>Date of Electronic Publication: </i>2026 Jun 23.
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