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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

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Title: Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Authors: Kiewiet G; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., de Boer EN; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., van Berkel E; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Hofste TGJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., van Zweeden M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Derks RC; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Leijsten NFA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Ruiterkamp-Versteeg MHA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Charbon B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Johansson L; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Bos-Kruizinga J; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Veenstra IJ; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., de Sain-van der Velden MGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Voorhoeve E; Centre for Health Protection, National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands., Nelen M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Mar 07; Vol. 10 (1). Date of Electronic Publication: 2024 Mar 07.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Kiewiet+G%22">Kiewiet G</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Westra+D%22">Westra D</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+EN%22">de Boer EN</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Berkel+E%22">van Berkel E</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hofste+TGJ%22">Hofste TGJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Zweeden+M%22">van Zweeden M</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Derks+RC%22">Derks RC</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Leijsten+NFA%22">Leijsten NFA</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ruiterkamp-Versteeg+MHA%22">Ruiterkamp-Versteeg MHA</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Charbon+B%22">Charbon B</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Johansson+L%22">Johansson L</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bos-Kruizinga+J%22">Bos-Kruizinga J</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Veenstra+IJ%22">Veenstra IJ</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Sain-van+der+Velden+MGM%22">de Sain-van der Velden MGM</searchLink>; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Voorhoeve+E%22">Voorhoeve E</searchLink>; Centre for Health Protection, National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heiner-Fokkema+MR%22">Heiner-Fokkema MR</searchLink>; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Spronsen+F%22">van Spronsen F</searchLink>; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sikkema-Raddatz+B%22">Sikkema-Raddatz B</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nelen+M%22">Nelen M</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%22101665400%22">International journal of neonatal screening</searchLink> [Int J Neonatal Screen] 2024 Mar 07; Vol. 10 (1). <i>Date of Electronic Publication: </i>2024 Mar 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101665400 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2409-515X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222409515X%22">2409515X </searchLink><i>NLM ISO Abbreviation: </i>Int J Neonatal Screen <i>Subsets: </i>PubMed not MEDLINE
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