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

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

Researcher/Postdoc
  • Section Clinical Genetics

Research Programs

Child Health

Research Output (36)

Accurate detection of circulating tumor DNA using nanopore consensus sequencing

Marcozzi Alessio, Jager Myrthe, Elferink Martin, Straver Roy, van Ginkel Joost H, Peltenburg Boris, Chen Li-Ting, Renkens Ivo, van Kuik Joyce, Terhaard Chris, de Bree Remco, Devriese Lot A, Willems Stefan M, Kloosterman Wigard P, de Ridder Jeroen 9 dec 2021, In: npj Genomic Medicine. 6 , p. 1-11

Informing metastatic colorectal cancer patients by quantifying multiple scenarios for survival time based on real-life data

Hamers P A H, Elferink M A G, Stellato R K, Punt C J A, May A M, Koopman M, Vink G R 7 jul 2020, In: International Journal of Cancer. 148 , p. 296-306 11 p.

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink M. G., Renkens I. J., Dooijes D., van Roosmalen M. J., Raimondeau E., Bowen R., Heron A. J., Graham J. E., van Amstel H. Ploos, Kloosterman W. P., van Gassen K. L. okt 2019, In: European Journal of Human Genetics. 27 , p. 1658-1658

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink Martin, Renkens Ivo , Dooijes Dennis, van Roosmalen Mark, Ploos van Amstel Hans Kristian, Kloosterman Wigard, van Gassen Koen 16 jun 2019,

Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin

Hochstenbach Ron, Elferink Martin G, van Zon Patrick H A, Lichtenbelt Klaske D, van Harssel Jeske, Schuring-Blom Heleen, Page-Christiaens Godelieve C M L mei 2018, In: Clinical case reports. 6 , p. 788-791 4 p.

Novel algorithms for improved sensitivity in non-invasive prenatal testing

Johansson Lennart F., De Boer E. N., De Weerd H. A., van Dijk F., Elferink M. G., Schuring-Blom G. H., Suijkerbuijk Ron F, Sinke Richard J., Te Meerman G. J., Sijmons Rolf H., Swertz Morris A., Sikkema-Raddatz B. 1 dec 2017, In: Scientific Reports. 7

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 okt 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. 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.

All research output

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