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Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

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Title: Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.
Authors: Turtinen T; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland., Isohanni P; Department of Pediatric Neurology, Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Anttonen AK; Laboratory of Genetics, Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Huhti L; Department of Clinical Genetics, Fimlab Laboratories, Tampere, Finland., Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.; Northern Finland Laboratory Centre, Oulu, Finland., Tikkanen M; Department of Pediatric Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland., Hakonen AH; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Faculty of Medicine, University of Helsinki, Helsinki, Finland., Mantere T; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland. tuomo.mantere@oulu.fi.
Source: Molecular cytogenetics [Mol Cytogenet] 2025 Dec 07; Vol. 19 (1), pp. 4. Date of Electronic Publication: 2025 Dec 07.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Turtinen+T%22">Turtinen T</searchLink>; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Isohanni+P%22">Isohanni P</searchLink>; Department of Pediatric Neurology, Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Anttonen+AK%22">Anttonen AK</searchLink>; Laboratory of Genetics, Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Huhti+L%22">Huhti L</searchLink>; Department of Clinical Genetics, Fimlab Laboratories, Tampere, Finland.<br /><searchLink fieldCode="AU" term="%22Pylkäs+K%22">Pylkäs K</searchLink>; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.; Northern Finland Laboratory Centre, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Tikkanen+M%22">Tikkanen M</searchLink>; Department of Pediatric Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.<br /><searchLink fieldCode="AU" term="%22Hakonen+AH%22">Hakonen AH</searchLink>; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Strang-Karlsson+S%22">Strang-Karlsson S</searchLink>; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Faculty of Medicine, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Mantere+T%22">Mantere T</searchLink>; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland. tuomo.mantere@oulu.fi.
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  Data: <searchLink fieldCode="JN" term="%22101317942%22">Molecular cytogenetics</searchLink> [Mol Cytogenet] 2025 Dec 07; Vol. 19 (1), pp. 4. <i>Date of Electronic Publication: </i>2025 Dec 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101317942 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1755-8166 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558166%22">17558166 </searchLink><i>NLM ISO Abbreviation: </i>Mol Cytogenet <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Dec 07
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