Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
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An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer
Levink, Iris J M, Srebniak, Malgorzata I, De Valk, Walter G, van Veghel-Plandsoen, Monique M, Wagner, Anja, Cahen, Djuna L, Fuhler, Gwenny M, Bruno, Marco J
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Published in Familial cancer (01.03.2011)
Published in Familial cancer (01.03.2011)
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Evaluation of Circulating Tumor DNA as a Liquid Biomarker in Uveal Melanoma
de Bruyn, Daniel P, van Poppelen, Natasha M, Brands, Tom, van den Boom, Susanne C, Eikenboom, Ellis, Wagner, Anja, van Veghel-Plandsoen, Monique M, Geeven, Geert, Beverloo, Berna, van Rij, Caroline M, Verdijk, Robert M, Naus, Nicole C, Bagger, Mette M, Kiilgaard, Jens F, de Klein, Annelies, Brosens, Erwin, Kiliç, Emine
Published in Investigative ophthalmology & visual science (01.02.2024)
Published in Investigative ophthalmology & visual science (01.02.2024)
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Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality
van den Ouweland, Ans M W, Dinjens, Winand N M, Dorssers, Lambert C J, van Veghel-Plandsoen, Monique M, Brüggenwirth, Hennie T, Withagen-Hermans, Caroline J, Collée, Johanna Margriet, Joosse, Simon A, Terlouw-Kromosoeto, Joan N R, Nederlof, Petra M
Published in Genetic testing and molecular biomarkers (01.06.2009)
Published in Genetic testing and molecular biomarkers (01.06.2009)
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
VAN VEGHEL-PLANDSOEN, Monique M, WOUTERS, Cokkie H, KROMOSOETO, Joan N. R, DEN RIDDER-KLÜNNEN, Mariska C, HALLEY, Dicky J. J, VAN DEN OUWELAND, Ans M. W
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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