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Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

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Title: Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
Authors: Lildballe DL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk., Huno MR; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Orthopedic Surgery, Slagelse Hospital, Slagelse, Denmark., Ridder LOR; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark., Balle CM; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark., Drue SO; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Berglund A; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Dunø M; Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark., Bak EN; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Viuff MH; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark., Rasmussen LS; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark., Gravholt CH; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 535-542. Date of Electronic Publication: 2026 Jan 22.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.
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  Data: <searchLink fieldCode="AU" term="%22Lildballe+DL%22">Lildballe DL</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk.<br /><searchLink fieldCode="AU" term="%22Huno+MR%22">Huno MR</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Orthopedic Surgery, Slagelse Hospital, Slagelse, Denmark.<br /><searchLink fieldCode="AU" term="%22Ridder+LOR%22">Ridder LOR</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Balle+CM%22">Balle CM</searchLink>; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Drue+SO%22">Drue SO</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Berglund+A%22">Berglund A</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Dunø+M%22">Dunø M</searchLink>; Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Bak+EN%22">Bak EN</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Viuff+MH%22">Viuff MH</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Rasmussen+LS%22">Rasmussen LS</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Gravholt+CH%22">Gravholt CH</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 535-542. <i>Date of Electronic Publication: </i>2026 Jan 22.
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              Text: 2026 Apr
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