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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: pedersen lh. Front Genet. 2023 Sep 27;14:1188472. doi: 10.3389/fgene.2023.1188472. eCollection 2023. Front Genet. 2023. PMID: 37829280 Free PMC article.
Atypicality index: avoiding false reassurance in prenatal screening.
Kristensen SE, Gadsbøll K, Nicolaides KH, Vogel I, Pedersen LH, Wright A, Petersen OB, Wright D. Kristensen SE, et al. Among authors: pedersen lh. Ultrasound Obstet Gynecol. 2023 Mar;61(3):333-338. doi: 10.1002/uog.26135. Epub 2023 Feb 11. Ultrasound Obstet Gynecol. 2023. PMID: 36468756 Free article.
Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide data on prenatal profiles and detection compared with NIPT.
Gadsbøll K, Vogel I, Kristensen SE, Pedersen LH, Hyett J; Danish Cytogenetic Central Register study group; Petersen OB. Gadsbøll K, et al. Among authors: pedersen lh. Ultrasound Obstet Gynecol. 2024 Apr 20. doi: 10.1002/uog.27667. Online ahead of print. Ultrasound Obstet Gynecol. 2024. PMID: 38642365
166 results