Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity.
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| Title: | Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity. |
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| Authors: | Cho HW; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Kim H; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea., Kim JM; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Shin DM; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Kim OH; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea., Yang M; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Korea., Jo HS; Department of Pediatrics, Kangwon National University School Hospital, Kangwon National Univertisy School of Medicine, Chuncheon, 24289, Korea., Jang MA; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea., Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea., Park HY; National Institute of Health, Cheongju, 28159, Korea., Chang YS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea. yunsil.chang@gmail.com.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Korea. yunsil.chang@gmail.com.; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, 06351, Korea. yunsil.chang@gmail.com., Park MH; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea. mihyun4868@korea.kr. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 09; Vol. 20 (1), pp. 349. Date of Electronic Publication: 2025 Jul 09. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40634996 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cho+HW%22">Cho HW</searchLink>; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+H%22">Kim H</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+JM%22">Kim JM</searchLink>; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea.<br /><searchLink fieldCode="AU" term="%22Shin+DM%22">Shin DM</searchLink>; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+OH%22">Kim OH</searchLink>; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea.<br /><searchLink fieldCode="AU" term="%22Yang+M%22">Yang M</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Korea.<br /><searchLink fieldCode="AU" term="%22Jo+HS%22">Jo HS</searchLink>; Department of Pediatrics, Kangwon National University School Hospital, Kangwon National Univertisy School of Medicine, Chuncheon, 24289, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+MA%22">Jang MA</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+JH%22">Jang JH</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea.<br /><searchLink fieldCode="AU" term="%22Park+HY%22">Park HY</searchLink>; National Institute of Health, Cheongju, 28159, Korea.<br /><searchLink fieldCode="AU" term="%22Chang+YS%22">Chang YS</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-Ro, Gangnam-Gu, Seoul, 06351, Korea. yunsil.chang@gmail.com.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Korea. yunsil.chang@gmail.com.; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, 06351, Korea. yunsil.chang@gmail.com.<br /><searchLink fieldCode="AU" term="%22Park+MH%22">Park MH</searchLink>; Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Chungbuk, 28159, Korea. mihyun4868@korea.kr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Jul 09; Vol. 20 (1), pp. 349. <i>Date of Electronic Publication: </i>2025 Jul 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40634996 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03871-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 349 Titles: – TitleFull: Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cho HW – PersonEntity: Name: NameFull: Kim H – PersonEntity: Name: NameFull: Kim JM – PersonEntity: Name: NameFull: Shin DM – PersonEntity: Name: NameFull: Kim OH – PersonEntity: Name: NameFull: Yang M – PersonEntity: Name: NameFull: Jo HS – PersonEntity: Name: NameFull: Jang MA – PersonEntity: Name: NameFull: Jang JH – PersonEntity: Name: NameFull: Park HY – PersonEntity: Name: NameFull: Chang YS – PersonEntity: Name: NameFull: Park MH IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 07 Text: 2025 Jul 09 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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