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Year | Number of Results |
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2016 | 2 |
2017 | 3 |
2021 | 1 |
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Page 1
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.
Clin Chem. 2017.
PMID: 27974384
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Hoegen B, Zammit A, Gerritsen A, Engelke UFH, Castelein S, van de Vorst M, Kluijtmans LAJ, Huigen MCDG, Wevers RA, van Gool AJ, Gilissen C, Coene KLM, Kulkarni P.
Hoegen B, et al. Among authors: castelein s.
Metabolites. 2021 Aug 26;11(9):568. doi: 10.3390/metabo11090568.
Metabolites. 2021.
PMID: 34564390
Free PMC article.
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG.
Haer-Wigman L, et al. Among authors: castelein s.
Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22.
Eur J Hum Genet. 2017.
PMID: 28224992
Free PMC article.
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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM.
Marouane A, et al. Among authors: castelein s.
Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023.
Front Genet. 2024.
PMID: 38259611
Free PMC article.
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.
Zazo Seco C, et al. Among authors: castelein s.
Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.
Eur J Hum Genet. 2017.
PMID: 28000701
Free PMC article.
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