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dr. ir. M.G. (Martin) Elferink

dr. ir. M.G. (Martin) Elferink

Researcher/Postdoc

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Research Output (40)

Defining quality standards for clinical whole exome sequencing: a national collaborative study of the Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL)

Elferink MG, Nijman IJ, van Gassen KLI 17 Oct 2017,

Defining quality standards for clinical whole exome sequencing: a national collaborative study of the Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL)

Elferink MG, Nijman IJ, , , , , , , , , , , , , , , , van Gassen KLI 22 Sep 2017,

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Willems Anke P., Gundogdu Mehmet, Kempers Marlies J.E., Giltay Jacques C , Pfundt Rolph, Elferink Martin, Loza Bettina F., Fuijkschot Joris, Ferenbach Andrew T., Van Gassen Koen L.I., van Aalten Daan M. F., Lefeber Dirk J. 28 Jul 2017, In: Journal of Biological Chemistry. 292 , p. 12621-12631 11 p.

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy

Schuring-Blom Heleen, Lichtenbelt Klaske, van Galen Karin, Elferink Martin, Weiss Marjan, Vermeesch Joris Robert, Page-Christiaens Lieve 1 Aug 2016, In: Prenatal Diagnosis. 36 , p. 790-793 4 p.

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

Elferink M. G., van Zon P., Frenkel J., Harts W., Simon A., van Royen-Kerkhof A., Swart J., van Amstel H. K Ploos, van Gijn M. 28 Sep 2015, p. p51

TARGETED PANEL SEQUENCING OF 399 RENAL GENES RECLASSIFIES PRIMARY DISEASE DIAGNOSES IN YOUNG ESRD PATIENTS

Van Eerde Albertien M., De Borst Martin H., Van der Zwaag Bert, Peters Edith J., Renkema Kirsten Y., Elferink Martin, Van Zon Patrick H. A., Lilien Marc R., Van Haaften Gijs W., Giles Rachel H., Navis Gerjan J., Knoers Nine V. A. M. Sep 2015, In: Pediatric Nephrology. 30 , p. 1548-1548 1 p.

Erratum:Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279)

Vrijenhoek Terry, Kraaijeveld Ken, Elferink Martin, De Ligt Joep, Kranendonk Elcke, Santen Gijs, Nijman Isaac J., Butler Derek, Claes Godelieve, Costessi Adalberto, Dorlijn Wim, Van Eyndhoven Winfried, Halley Dicky J J, Van Den Hout Mirjam C G N, Van Hove Steven, Johansson Lennart F., Jongbloed Jan D H, Kamps Rick, Kockx Christel E M, De Koning Bart, Kriek Marjolein, Deprez Ronald Lekanne Dit, Lunstroo Hans, Mannens Marcel, Mook Olaf R., Nelen Marcel, Ploem Corrette, Rijnen Marco, Saris Jasper J., Sinke Richard, Sistermans Erik, Van Slegtenhorst Marjon, Sleutels Frank, Van Der Stoep Nienke, Van Tienhoven Marianne, Vermaat Martijn, Vogel Maartje, Waisfisz Quinten, Weiss Janneke Marjan, Van Den Wijngaard Arthur, Van Workum Wilbert, Ijntema Helger, Van Der Zwaag Bert, Van Ijcken Wilfred F J, Den Dunnen Johan T., Veltman Joris A., Hennekam Raoul, Cuppen Edwin Sep 2015, In: European Journal of Human Genetics. 23 , p. 1270 1 p.

Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast:proof from an unique case

Hochstenbach Ron, Nikkels Peter G J, Elferink Martin G, Oudijk Martijn A, van Oppen Carla, van Zon Patrick, van Harssel Jeske, Schuring-Blom Heleen, Page-Christiaens Godelieve C M L Jun 2015, In: Clinical case reports. 3 , p. 489-91 3 p.

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

de Koning Heleen D., van Gijn Marielle E., Stoffels Monique, Jongekrijg Johanna, Zeeuwen Patrick L. J. M., Elferink Martin G., Nijman Isaac J., Jansen Patrick A. M., Neveling Kornelia, van der Meer Jos W. M., Schalkwijk Joost, Simon Anna Feb 2015, In: Journal of Allergy and Clinical Immunology. 135 , p. 561-U390 9 p.

Next-generation sequencing-based genome diagnostics across clinical genetics centers:implementation choices and their effects

Vrijenhoek Terry, Kraaijeveld Ken, Elferink Martin, de Ligt Joep, Kranendonk Elcke, Santen Gijs, Nijman Isaac J., Butler Derek, Claes Godelieve, Costessi Adalberto, Dorlijn Wim, van Eyndhoven Winfried, Halley Dicky J J, van den Hout Mirjam C G N, van Hove Steven, Johansson Lennart F., Jongbloed Jan D H, Kamps Rick, Kockx Christel E M, de Koning Bart, Kriek Marjolein, Lekanne dit Deprez Ronald, Lunstroo Hans, Mannens Marcel, Nelen Marcel, Ploem Corrette, Rijnen Marco, Saris Jasper J., Sinke Richard, Sistermans Erik, van Slegtenhorst Marjon, Sleutels Frank, van der Stoep Nienke, van Tienhoven Marianne, Vermaat Martijn, Vogel Maartje, Waisfisz Quinten, Marjan Weiss Janneke, van den Wijngaard Arthur, van Workum Wilbert, Ijntema Helger, van der Zwaag Bert, van IJcken Wilfred F J, den Dunnen Johan, Veltman Joris A., Hennekam Raoul, Cuppen Edwin 28 Jan 2015, In: European Journal of Human Genetics. 23 , p. 1142-1150

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