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Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Front Genet. 2023 Sep 27;14:1188472. doi: 10.3389/fgene.2023.1188472. eCollection 2023.
Front Genet. 2023.
PMID: 37829280
Free PMC article.
Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis.
Jeppesen LD, Hatt L, Singh R, Ravn K, Kølvraa M, Schelde P, Uldbjerg N, Vogel I, Lildballe DL.
Jeppesen LD, et al.
Prenat Diagn. 2021 Jan;41(2):234-240. doi: 10.1002/pd.5861. Epub 2020 Nov 14.
Prenat Diagn. 2021.
PMID: 33150588
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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: jeppesen ld.
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.
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Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT.
Jeppesen LD, Hatt L, Singh R, Schelde P, Andreasen L, Markholt S, Lildballe DL, Vogel I.
Jeppesen LD, et al.
Front Genet. 2021 Sep 14;12:741752. doi: 10.3389/fgene.2021.741752. eCollection 2021.
Front Genet. 2021.
PMID: 34594364
Free PMC article.
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Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
Jeppesen LD, Hjortshøj TD, Hindkjær J, Hatt L, Petersen OB, Singh R, Schelde P, Andreasen L, Christensen R, Lildballe DL, Vogel I.
Jeppesen LD, et al.
Front Genet. 2022 Mar 11;13:842092. doi: 10.3389/fgene.2022.842092. eCollection 2022.
Front Genet. 2022.
PMID: 35360877
Free PMC article.
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Do fetal extravillous trophoblasts circulate in maternal blood postpartum?
van de Looij A, Singh R, Hatt L, Ravn K, Jeppesen LD, Nicolaisen BH, Kølvraa M, Vogel I, Schelde P, Uldbjerg N.
van de Looij A, et al. Among authors: jeppesen ld.
Acta Obstet Gynecol Scand. 2020 Jun;99(6):751-756. doi: 10.1111/aogs.13880. Epub 2020 May 17.
Acta Obstet Gynecol Scand. 2020.
PMID: 32323316
Free PMC article.
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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: jeppesen ld.
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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Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Jeppesen LD, Lildballe DL, Hatt L, Hedegaard J, Singh R, Toft CLF, Schelde P, Pedersen AS, Knudsen M, Vogel I.
Jeppesen LD, et al.
Prenat Diagn. 2023 Jan;43(1):3-13. doi: 10.1002/pd.6276. Epub 2022 Dec 8.
Prenat Diagn. 2023.
PMID: 36447355
Free PMC article.
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