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Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.
Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA. Zink AM, et al. Among authors: ravn k. Mol Syndromol. 2014 Feb;5(2):65-75. doi: 10.1159/000357962. Epub 2014 Jan 29. Mol Syndromol. 2014. PMID: 24715853 Free PMC article.
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Jeppesen LD, Hatt L, Singh R, Schelde P, Ravn K, Toft CL, Laursen MB, Hedegaard J, Christensen IB, Nicolaisen BH, Andreasen L, Pedersen LH, Vogel I, Lildballe DL. Jeppesen LD, et al. Among authors: ravn k. Front Genet. 2023 Sep 27;14:1188472. doi: 10.3389/fgene.2023.1188472. eCollection 2023. Front Genet. 2023. PMID: 37829280 Free PMC article.
How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark.
Hatt L, Ravn K, Dahl Jeppesen L, Hestbek Nicolaisen B, Baasch Christensen I, Singh R, Schelde P, Horsholt Thomsen S, Christensen R, Sinding M, Vase L, Oestergaard M, Bender Ruggard M, Jensen HS, Mogensen H, Uldbjerg N, Becher N, Markholt S, Sandager P, Henning Pedersen L, Vogel I. Hatt L, et al. Among authors: ravn k. Prenat Diagn. 2023 Jun;43(7):854-864. doi: 10.1002/pd.6387. Epub 2023 May 25. Prenat Diagn. 2023. PMID: 37199490
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing.
Toft CLF, Ingerslev HJ, Kesmodel US, Hatt L, Singh R, Ravn K, Nicolaisen BH, Christensen IB, Kølvraa M, Jeppesen LD, Schelde P, Vogel I, Uldbjerg N, Farlie R, Sommer S, Østergård MLV, Jensen AN, Mogensen H, Kjartansdóttir KR, Degn B, Okkels H, Ernst A, Pedersen IS. Toft CLF, et al. Among authors: ravn k. J Assist Reprod Genet. 2021 Aug;38(8):1959-1970. doi: 10.1007/s10815-021-02104-5. Epub 2021 Mar 7. J Assist Reprod Genet. 2021. PMID: 33677749 Free PMC article. Clinical Trial.
Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations.
Hatt L, Singh R, Christensen R, Ravn K, Christensen IB, Jeppesen LD, Nicolaisen BH, Kølvraa M, Schelde P, Andreassen L, Farlie R, Uldbjerg N, Vogel I. Hatt L, et al. Among authors: ravn k. Clin Case Rep. 2020 Aug 9;8(12):2561-2567. doi: 10.1002/ccr3.3211. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363780 Free PMC article.
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