Research output per year
Research output per year
- 10 results
Search results
-
2023
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls
Jeppesen, L. D., Hatt, L., Singh, R., Schelde, P., Ravn, K., Toft, C. L., Laursen, M. B., Hedegaard, J., Christensen, I. B., Nicolaisen, B. H., Andreasen, L., Pedersen, L. H., Vogel, I. & Lildballe, D. L., 2023, In: Frontiers in Genetics. 14, 15 p., 1188472.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
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, H. S., Mogensen, H., Uldbjerg, N., Becher, N., Markholt, S., Sandager, P. & Henning Pedersen, L. & 1 others, , Jun 2023, In: Prenatal Diagnosis. 43, 7, p. 854-864 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile6 Citations (Scopus)5 Downloads (Pure) -
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants
Jeppesen, L. D., Lildballe, D. L., Hatt, L., Hedegaard, J., Singh, R., Toft, C. L. F., Schelde, P., Pedersen, A. S., Knudsen, M. & Vogel, I., Jan 2023, In: Prenatal Diagnosis. 43, 1, p. 3-13 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access11 Citations (Scopus) -
Noninvasive Prenatal Screening for Cystic Fibrosis Using Circulating Trophoblasts: Detection of the 50 Most Common Disease-Causing Variants
Jeppesen, L. D., Lildballe, D. L., Hatt, L., Hedegaard, J., Singh, R., Toft, C. L. F., Schelde, P., Pedersen, A. S., Knudsen, M. & Vogel, I., 1 Jul 2023, In: Obstetrical and Gynecological Survey. 78, 7, p. 393-395 3 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
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2022
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy
Jeppesen, L. D., Hjortshøj, T. D., Hindkjær, J., Hatt, L., Petersen, O. B., Singh, R., Schelde, P., Andreasen, L., Christensen, R., Lildballe, D. L. & Vogel, I., Mar 2022, In: Frontiers in Genetics. 13, 8 p., 842092.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access2 Citations (Scopus) -
2021
Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis
Jeppesen, L. D., Hatt, L., Singh, R., Ravn, K., Kølvraa, M., Schelde, P., Uldbjerg, N., Vogel, I. & Lildballe, D. L., Jan 2021, In: Prenatal Diagnosis. 41, 2, p. 234-240 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
10 Citations (Scopus) -
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing
Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Hatt, L., Singh, R., Ravn, K., Nicolaisen, B. H., Christensen, I. B., Kølvraa, M., Jeppesen, L. D., Schelde, P., Vogel, I., Uldbjerg, N., Farlie, R., Sommer, S., Østergård, M. L. V., Jensen, A. N., Mogensen, H., Kjartansdóttir, K. R. & Degn, B. & 3 others, , Aug 2021, In: Journal of Assisted Reproduction and Genetics. 38, 8, p. 1959-1970 12 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile8 Citations (Scopus)35 Downloads (Pure) -
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, L. D., Hatt, L., Singh, R., Schelde, P., Andreasen, L., Markholt, S., Lildballe, D. L. & Vogel, I., Sept 2021, In: Frontiers in Genetics. 12, 741752.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access9 Citations (Scopus) -
2020
Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
Hatt, L., Singh, R., Christensen, R., Ravn, K., Christensen, I. B., Jeppesen, L. D., Nicolaisen, B. H., Kolvraa, M., Schelde, P., Andreassen, L., Farlie, R., Uldbjerg, N. & Vogel, I., Dec 2020, In: Clinical Case Reports. 8, 12, p. 2561-2567 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access10 Citations (Scopus) -
Do fetal extravillous trophoblasts circulate in maternal blood postpartum?
Van De Looij, A., Singh, R., Hatt, L., Ravn, K., Jeppesen, L. D., Nicolaisen, B. H., Kølvraa, M., Vogel, I., Schelde, P. & Uldbjerg, N., Jun 2020, In: Acta Obstetricia et Gynecologica Scandinavica. 99, 6, p. 751-756 6 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile9 Citations (Scopus)62 Downloads (Pure)