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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)

Next-Generation-Sequencing-based molecular diagnostics for congenital and inherited kidney disease

van der Zwaag A., van Eerde A.M., Elferink M.G., van Zon P.H.A, Stokman M.F., Renkema K.Y., Nicolaou N., Ploos van Amstel J.K., Knoers Nine 31 May 2014,

Feasibility of utilization of semiconductor based low coverage genomic sequencing in noninvasive prenatal trisomy 21 detection

Repiska G., Nagyova E., Soltysova K., Budis J., Sysak R., Gerykova-Bujalkova M., Vlkova-Izrael B., Szemes T., Minarik G., Hudecova I., Porubsky D., Schuring-Blom H.G., van Kempen M.J.A., Elferink M.G., de Bruijn E., Page-Christiaens G.C.M.L., Nijman I.J., Ploos van Amstel J.K., Cuppen E.P.J.G., van Haaften G.W. 31 May 2014,

Targeted next-generation sequencing:A novel diagnostic tool for primary immunodeficiencies

Nijman Isaäc, van Montfrans JM, Hoogstraat Marlous, Boes Marianne L., van de Corput CJD, Renner Ellen D., van Zon PHA, van Lieshout S., Elferink Martin G., van der Burg Mirjam, Vermont Clementien L., van der Zwaag Bert, Janson Esther, Cuppen Edwin, Ploos van Amstel J.K., van Gijn ME Feb 2014, In: Journal of Allergy and Clinical Immunology. 133 , p. 529-+ 7 p.

NGS diagnostics in RBC membrane disorders

van der Zwaag B., van Wijk R., Elferink M.G., Vogel M.J., Nijman I.J., van Zon P.H.A, Cuppen E.P.J.G., Solinge van W.W., Ploos van Amstel H.K. 3 Sep 2013,

Effective noninvasive prenatal testing of fetal aneuploidies using the SOLiD Wildfire platform

Elferink M.G., de Bruijn E.A., van Zon P.H.A, Akkermans O., Christiaens G.C.M.L., Lichtenbelt K.D., Nijman I.J., van Haaften G.W., van Kempen M.J.A., Cuppen E.P.J.G., Ploos van Amstel J.K., Schuring - Blom H.G. 20 Jun 2013,

Next generation sequencing in the diagnosis of red blood cell membrane disorders

van Wijk R., van der Zwaag B., Vogel M.J., Elferink M.G., Nijman I.J., Cuppen E.P.J.G., van Solinge W.W., Ploos van Amstel H.K. 13 Jun 2013,

Massively parallel sequencing identifies the large majority of mutations causing red blood cell membrane disorders

van der Zwaag B., van Wijk R., Elferink M.G., Vogel M.J., Nijman I.J., Cuppen E.P.J.G., van Solinge W.W., Ploos van Amstel J.K. 8 Jun 2013,

Effective noninvasive prenatal testing of fetal aneuploidies using the SOLiD Wildfire platform

Elferink M.G., de Bruijn E., van Zon P.H.A, Christiaens G.C.M.L., Lichtenbelt K.D., Nijman I.J., van Haaften G.W., van der Zwaag B., van Kempen M.J.A., Cuppen E.P.J.G., Ploos van Amstel J.K., Schuring - Blom H.G. 16 Apr 2013,

NGS diagnostics in RBC membrane disorders

van der Zwaag B., van Wijk R., Elferink M.G., Vogel M.J., Nijman I.J., van Zon P.H.A, Cuppen E.P.J.G., van Solinge W.W., Ploos van Amstel J.K. 10 Apr 2013,

Noninvasive prenatal testing for fetal trisomies: A validation study using the SOLiD Wildfire platform

Elferink M.G., de Bruijn E., van Zon P.H.A, Akkermans O., van Tuil M.C., Kusters K.A., Christiaens G.C.M.L., Lichtenbelt K.D., Nijman I.J., van Haaften G.W., van der Zwaag B., van Kempen M.J.A., Cuppen E.P.J.G., Ploos van Amstel H.K., Schuring - Blom H.G. 2013,

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