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Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Lee, Youngha; Park, Soojin; Lee, Jin Sook; Kim, Soo Yeon; Cho, Jaeso; Yoo, Yongjin; Lee, Sangmoon; Yoo, Taekyeong; Lee, Moses; Seo, Jieun; Lee, Jeongeun; Kneissl, Jana; Lee, Jean; Jeon, Hyoungseok; Jeon, Eun Young; Hong, Sung Eun; Kim, Eunha; Kim, Hyuna; Kim, Woo Joong; Kim, Jon Soo; Ko, Jung Min; Cho, Anna; Lim, Byung Chan; Kim, Won Seop; Choi, Murim; Chae, Jong-Hee.
Afiliación
  • Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Park S; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Lee JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Kim SY; Department of Pediatrics, Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, Republic of Korea.
  • Cho J; Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, Republic of Korea.
  • Yoo Y; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Yoo T; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Lee M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Seo J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Lee J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Kneissl J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Lee J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Jeon H; Interdisciplinary Program for Bioengineering, Graduate School, Seoul National Universty, Seoul, 03080, Republic of Korea.
  • Jeon EY; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Hong SE; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Kim E; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Kim H; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Kim WJ; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Kim JS; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Cho A; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Lim BC; Department of Pediatrics, Chungbuk National University Hospital, Cheongju, 28644, Republic of Korea.
  • Kim WS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Choi M; Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, 07804, Republic of Korea.
  • Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Sci Rep ; 10(1): 1413, 2020 Jan 29.
Article en En | MEDLINE | ID: mdl-31996704
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Genes Recesivos / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Genes Recesivos / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article