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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC. Corsten-Janssen N, et al. Among authors: bouman k. Prenat Diagn. 2020 Sep;40(10):1300-1309. doi: 10.1002/pd.5781. Epub 2020 Jul 20. Prenat Diagn. 2020. PMID: 32627857 Free PMC article.
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study.
Boormans EM, Birnie E, Wildschut HI, Schuring-Blom HG, Oepkes D, van Oppen CA, Nijhuis JG, Macville MV, Kooper AJ, Huijsdens K, Hoffer MV, Go A, Creemers J, Bhola SL, Bilardo KM, Suijkerbuijk R, Bouman K, Galjaard RJ, Bonsel GJ, van Lith JM. Boormans EM, et al. Among authors: bouman k. BMC Pregnancy Childbirth. 2008 May 20;8:18. doi: 10.1186/1471-2393-8-18. BMC Pregnancy Childbirth. 2008. PMID: 18492228 Free PMC article. Clinical Trial.
Effect of prenatal screening on trends in perinatal mortality associated with congenital anomalies before and after the introduction of prenatal screening: A population-based study in the Northern Netherlands.
Bardi F, Bergman JEH, Bouman K, Erwich JJ, Duin LK, Walle HEK, Bakker MK. Bardi F, et al. Among authors: bouman k. Paediatr Perinat Epidemiol. 2021 Nov;35(6):654-663. doi: 10.1111/ppe.12792. Epub 2021 Jul 30. Paediatr Perinat Epidemiol. 2021. PMID: 34328233 Free PMC article.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH; Dutch NIPT consortium. van Prooyen Schuurman L, et al. Among authors: bouman k. Am J Hum Genet. 2022 Jun 2;109(6):1140-1152. doi: 10.1016/j.ajhg.2022.04.018. Am J Hum Genet. 2022. PMID: 35659929 Free PMC article.
80 results