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Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.

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Title: Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Authors: Wedge E; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark., Rasmussen AØ; Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Borgwardt L; Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Cowland JB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Grønbæk K; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Issa II; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark., Friis LS; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hvidbjerg MS; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Jelsig AM; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 959-965. Date of Electronic Publication: 2025 Dec 02.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
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  Data: <searchLink fieldCode="AU" term="%22Wedge+E%22">Wedge E</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Rasmussen+AØ%22">Rasmussen AØ</searchLink>; Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Borgwardt+L%22">Borgwardt L</searchLink>; Department of Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Cowland+JB%22">Cowland JB</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Grønbæk+K%22">Grønbæk K</searchLink>; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Issa+II%22">Issa II</searchLink>; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Biotech Research and Innovation Center (BRIC), University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Friis+LS%22">Friis LS</searchLink>; Department of Hematology, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Andersen+MK%22">Andersen MK</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hvidbjerg+MS%22">Hvidbjerg MS</searchLink>; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Jelsig+AM%22">Jelsig AM</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 959-965. <i>Date of Electronic Publication: </i>2025 Dec 02.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmga.70015
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        Text: English
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              Text: 2026 Apr
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