Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.
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| Title: | Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation. |
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| Authors: | Tsai CY; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan., Lu YS; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan., Chiang YT; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan., Lo MY; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan., Lin PH; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan., Tsai SF; Institute of Molecular and Genomic Medicine, National Health Research Institute, Miaoli, 350401, Taiwan.; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, 112304, Taiwan., Hsu CJ; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Department of Otolaryngology, Buddhist Tzuchi General Hospital, Taichung, 427003, Taiwan., Chen PL; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan.; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, 100225, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100226, Taiwan., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan. jacobhsu@ntu.edu.tw., Wu CC; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan. chenchiwu@ntuh.gov.tw.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, 302041, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Otolaryngology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, 302041, Taiwan. chenchiwu@ntuh.gov.tw. |
| Source: | Molecular medicine (Cambridge, Mass.) [Mol Med] 2026 Jul 13. Date of Electronic Publication: 2026 Jul 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42437880 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tsai+CY%22">Tsai CY</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lu+YS%22">Lu YS</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chiang+YT%22">Chiang YT</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lo+MY%22">Lo MY</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+PH%22">Lin PH</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tsai+SF%22">Tsai SF</searchLink>; Institute of Molecular and Genomic Medicine, National Health Research Institute, Miaoli, 350401, Taiwan.; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, 112304, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+CJ%22">Hsu CJ</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan.; Department of Otolaryngology, Buddhist Tzuchi General Hospital, Taichung, 427003, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan.; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, 100225, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100226, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+JS%22">Hsu JS</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 1 Jen-Ai Road Sec.1, Taipei, 100233, Taiwan. jacobhsu@ntu.edu.tw.<br /><searchLink fieldCode="AU" term="%22Wu+CC%22">Wu CC</searchLink>; Department of Otolaryngology, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, 100225, Taiwan. chenchiwu@ntuh.gov.tw.; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100229, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, 302041, Taiwan. chenchiwu@ntuh.gov.tw.; Department of Otolaryngology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, 302041, Taiwan. chenchiwu@ntuh.gov.tw. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229501023%22">Molecular medicine (Cambridge, Mass.)</searchLink> [Mol Med] 2026 Jul 13. <i>Date of Electronic Publication: </i>2026 Jul 13. – 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>9501023 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-3658 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210761551%22">10761551 </searchLink><i>NLM ISO Abbreviation: </i>Mol Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42437880 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s10020-026-01553-x Languages: – Code: eng Text: English Titles: – TitleFull: Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tsai CY – PersonEntity: Name: NameFull: Lu YS – PersonEntity: Name: NameFull: Chiang YT – PersonEntity: Name: NameFull: Lo MY – PersonEntity: Name: NameFull: Lin PH – PersonEntity: Name: NameFull: Tsai SF – PersonEntity: Name: NameFull: Hsu CJ – PersonEntity: Name: NameFull: Chen PL – PersonEntity: Name: NameFull: Hsu JS – PersonEntity: Name: NameFull: Wu CC IsPartOfRelationships: – BibEntity: Dates: – D: 13 M: 07 Text: 2026 Jul 13 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1528-3658 Titles: – TitleFull: Molecular medicine (Cambridge, Mass.) Type: main |
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