Research output per year
Research output per year
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Dive into the research topics where Myrthe van den Born is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 18 Article
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The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies
Diderich, K. E. M., Bruggenwirth, H. T., Joosten, M., Thurik, F., Mijalkovic, J., Polak, M., Kromosoeto, J., Somers-Bolman, G. M., van den Born, M., Drost, M., Galjaard, R. J. H., Galjaard, S., Hoefsloot, L. H., Knapen, M. F. C. M., van Minkelen, R., van der Schoot, V., van Slegtenhorst, M. A., Sleutels, F., Stuurman, K. E. & Weerts, M. J. A. & 3 others, , Nov 2024, In: Prenatal Diagnosis. 44, 12, p. 1444-1450 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)11 Downloads (Pure) -
Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta
Eggenhuizen, G. M., van Veen, S., van Koetsveld, N., Go, A. T. J. I., Diderich, K. E. M., Joosten, M., van den Born, M., Srebniak, M. I. & Van Opstal, D., 2 Sept 2024, In: Placenta. 154, p. 60-65 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)25 Downloads (Pure) -
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Karayol, R., Borroto, M. C., Haghshenas, S., Namasivayam, A., Reilly, J., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Shvedunova, M., Petersen, A. K., Magnussen, K., Zweier, C., Vasileiou, G., Reis, A., Savatt, J. M., Mulligan, M. R., Bicknell, L. S., Poke, G. & Abu-El-Haija, A. & 46 others, , 11 Jul 2024, In: American Journal of Human Genetics. 111, 7, p. 1330-1351 22 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure) -
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results
Donze, S. H., Srebniak, M. I., Diderich, K. E. M., van den Born, M., Galjaard, R.-J., Govaerts, L. C. P., van der Schoot, V., Knapen, M. F. C. M., Joosten, M. & Van Opstal, D., Apr 2024, In: Prenatal Diagnosis. 44, 4, p. 401-408 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)10 Downloads (Pure) -
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study
Eggenhuizen, G. M., Go, A. T. J. I., Sauter, Z., Hoffer, M. J. V., Haak, M. C., Geeven, G., Diderich, K. E. M., Joosten, M., van den Born, M., Srebniak, M. I. & Van Opstal, D., Mar 2024, In: Prenatal Diagnosis. 44, 3, p. 289-296 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Citations (Scopus)152 Downloads (Pure)