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Optical genome mapping enables accurate testing of large repeat expansions.

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Title: Optical genome mapping enables accurate testing of large repeat expansions.
Authors: van der Sanden B; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Shukor S; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Gallagher MD; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Lee J; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Burke SL; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Pennings M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., van Beek R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Oorsprong M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Kater-Baats E; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Kamping E; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Tieleman AA; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Voermans NC; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC 3084, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC 3052, Melbourne, Australia., Gecz J; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia., Corbett MA; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Pang AWC; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Hastie A; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA., Kamsteeg EJ; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl., Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Source: Genome research [Genome Res] 2025 Apr 14; Vol. 35 (4), pp. 810-823. Date of Electronic Publication: 2025 Apr 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Optical genome mapping enables accurate testing of large repeat expansions.
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  Data: <searchLink fieldCode="AU" term="%22van+der+Sanden+B%22">van der Sanden B</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Neveling+K%22">Neveling K</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Shukor+S%22">Shukor S</searchLink>; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.<br /><searchLink fieldCode="AU" term="%22Gallagher+MD%22">Gallagher MD</searchLink>; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.<br /><searchLink fieldCode="AU" term="%22Burke+SL%22">Burke SL</searchLink>; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.<br /><searchLink fieldCode="AU" term="%22Pennings+M%22">Pennings M</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Beek+R%22">van Beek R</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Oorsprong+M%22">Oorsprong M</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kater-Baats+E%22">Kater-Baats E</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kamping+E%22">Kamping E</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Tieleman+AA%22">Tieleman AA</searchLink>; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Voermans+NC%22">Voermans NC</searchLink>; Department of Neurology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC 3084, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC 3052, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+MA%22">Corbett MA</searchLink>; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Vissers+LELM%22">Vissers LELM</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pang+AWC%22">Pang AWC</searchLink>; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.<br /><searchLink fieldCode="AU" term="%22Hastie+A%22">Hastie A</searchLink>; Bionano Genomics Clinical and Scientific Affairs, San Diego, California 92101, USA.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl.<br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink>; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; erik-jan.kamsteeg@radboudumc.nl alexander.hoischen@radboudumc.nl.; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
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  Data: <searchLink fieldCode="JN" term="%229518021%22">Genome research</searchLink> [Genome Res] 2025 Apr 14; Vol. 35 (4), pp. 810-823. <i>Date of Electronic Publication: </i>2025 Apr 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9518021 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1549-5469 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210889051%22">10889051 </searchLink><i>NLM ISO Abbreviation: </i>Genome Res <i>Subsets: </i>MEDLINE
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