Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing.
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| Title: | Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing. |
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| Authors: | Ding Q; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: ding.qiliang@mayo.edu., Balan J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Vidal-Folch N; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Pickart AM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Sun G; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Walsh JR; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Majumdar R; Advanced Diagnostics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Murphy SJ; Advanced Diagnostics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Oglesbee D; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Rowsey RA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: hasadsri.linda@mayo.edu. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101539. Date of Electronic Publication: 2025 Aug 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40757397 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ding+Q%22">Ding Q</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: ding.qiliang@mayo.edu.<br /><searchLink fieldCode="AU" term="%22Balan+J%22">Balan J</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Vidal-Folch+N%22">Vidal-Folch N</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Pickart+AM%22">Pickart AM</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Sun+G%22">Sun G</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Walsh+JR%22">Walsh JR</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Majumdar+R%22">Majumdar R</searchLink>; Advanced Diagnostics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Murphy+SJ%22">Murphy SJ</searchLink>; Advanced Diagnostics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Oglesbee+D%22">Oglesbee D</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Rowsey+RA%22">Rowsey RA</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Hasadsri+L%22">Hasadsri L</searchLink>; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: hasadsri.linda@mayo.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101539. <i>Date of Electronic Publication: </i>2025 Aug 05. – 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40757397 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.gim.2025.101539 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 101539 Titles: – TitleFull: Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ding Q – PersonEntity: Name: NameFull: Balan J – PersonEntity: Name: NameFull: Vidal-Folch N – PersonEntity: Name: NameFull: Pickart AM – PersonEntity: Name: NameFull: Sun G – PersonEntity: Name: NameFull: Walsh JR – PersonEntity: Name: NameFull: Majumdar R – PersonEntity: Name: NameFull: Klee EW – PersonEntity: Name: NameFull: Murphy SJ – PersonEntity: Name: NameFull: Oglesbee D – PersonEntity: Name: NameFull: Rowsey RA – PersonEntity: Name: NameFull: Hasadsri L IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2025 Oct Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1530-0366 Numbering: – Type: volume Value: 27 – Type: issue Value: 10 Titles: – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics Type: main |
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