Faas BHW - Search Results

1

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I. Faas BHW, et al. Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5. Prenat Diagn. 2023. PMID: 36647814

2

Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.

Kooper AJ, de Bruijn D, van Ravenwaaij-Arts CM, Faas BH, Creemers JW, Thomas CM, Smits AP. Kooper AJ, et al. Prenat Diagn. 2007 Jan;27(1):29-33. doi: 10.1002/pd.1614. Prenat Diagn. 2007. PMID: 17154227

3

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Faas BH, Nillesen W, Vermeer S, Weghuis DO, de Leeuw N, Smits AP, van Ravenswaaij-Arts CM. Faas BH, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):511-9. doi: 10.1016/j.ejmg.2008.07.002. Epub 2008 Jul 19. Eur J Med Genet. 2008. PMID: 18691679

4

Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.

Kooper AJ, Faas BH, Kater-Baats E, Feuth T, Janssen JC, van der Burgt I, Lotgering FK, van Kessel AG, Smits AP. Kooper AJ, et al. Prenat Diagn. 2008 Nov;28(11):1004-10. doi: 10.1002/pd.2111. Prenat Diagn. 2008. PMID: 18925610

5

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.

Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N. Faas BH, et al. J Med Genet. 2010 Sep;47(9):586-94. doi: 10.1136/jmg.2009.075853. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577003

6

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.

de Leeuw N, Hehir-Kwa JY, Simons A, Geurts van Kessel A, Smeets DF, Faas BH, Pfundt R. de Leeuw N, et al. Cytogenet Genome Res. 2011;135(3-4):212-21. doi: 10.1159/000331273. Epub 2011 Sep 16. Cytogenet Genome Res. 2011. PMID: 21934286 Review.

7

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.

Faas BH, Feenstra I, Eggink AJ, Kooper AJ, Pfundt R, van Vugt JM, de Leeuw N. Faas BH, et al. Prenat Diagn. 2012 Apr;32(4):362-70. doi: 10.1002/pd.2948. Prenat Diagn. 2012. PMID: 22467167

8

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells.

Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, Vissers L, Geurts van Kessel A. Faas BH, et al. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S19-26. doi: 10.1517/14712598.2012.670632. Epub 2012 Apr 16. Expert Opin Biol Ther. 2012. PMID: 22500971

9

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

Buysse K, Beulen L, Gomes I, Gilissen C, Keesmaat C, Janssen IM, Derks-Willemen JJ, de Ligt J, Feenstra I, Bekker MN, van Vugt JM, Geurts van Kessel A, Vissers LE, Faas BH. Buysse K, et al. Clin Biochem. 2013 Dec;46(18):1783-6. doi: 10.1016/j.clinbiochem.2013.07.020. Epub 2013 Aug 8. Clin Biochem. 2013. PMID: 23933476

10

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

Buysse K, de Ligt J, Janssen IM, van Bon BW, Gomes I, Hehir-Kwa J, Eggink AJ, van Vugt JM, Vissers LE, Geurts van Kessel A, Faas BH. Buysse K, et al. Prenat Diagn. 2014 Apr;34(4):402-5. doi: 10.1002/pd.4312. Epub 2014 Feb 6. Prenat Diagn. 2014. PMID: 24391091 No abstract available.

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