Back

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

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

Researcher/Postdoc

Show full profile

Research Output (40)

Towards sensitive diagnostic exome sequencing without the need for confirmations by Sanger sequencing

Elferink Martin, van Gassen Koen, van Tuil M., van Zon Patrick , Nijman Isaac J., van der Zwaag Bert, Ploos van Amstel Hans-Kristian 15 Jan 2015,

Unexplained False Negative Results in Noninvasive Prenatal Testing:Two Cases Involving Trisomies 13 and 18

Hochstenbach R, Page-Christiaens G C M L, van Oppen A C C, Lichtenbelt K D, van Harssel J J T, Brouwer T, Manten G T R, van Zon P, Elferink M, Kusters K, Akkermans O, Ploos van Amstel J K, Schuring-Blom G H 2015, In: Case reports in genetics. 2015 7 p.

Next-Generation-Sequencing-based Molecular Diagnostics for Congenital and Inherited Kidney Disease

van der Zwaag B., van Eerde A.M., Elferink M.G., van Zon P.H.A, Stokman M.F., Renkema K.Y., Nicolaou N., Ploos van Amstel H.K., Knoers Nine 11 Nov 2014,

Implementation of targeted NGS based pid screening for routine diagnostic use

van Montfrans J.M., van de Corput L., van Zon P.H.A, Elferink M.G., Frenkel J., Leavis H., Ellerbroek P.M., van Royen-Kerkhof A., Janssen W., Boes M., Ploos van Amstel H.K., van Gijn M.E. 29 Oct 2014,

Implementation of Targeted NGS Based PID Screening for Routine Diagnostic Use

van Montfrans J., van de Corput L., van Zon P., Elferink M. G., Harts W., Frenkel J., Leavis H., Ellerbroek P., van Royen-Kerkhof A., Janssen W., Boes M., van Amstel J. Ploos, Gijn M. E. Oct 2014, In: Journal of Clinical Immunology. 34 , p. S379-S379 1 p.

Gene panel sequencing in nephrogenetic diagnostics

van Eerde A.M., van der Zwaag A., Elferink M.G., van Zon P.H.A, Lilien M.R., Renkema K.Y., Giles R.H., Ploos van Amstel J.K., Knoers Nine 11 Sep 2014,

CKD-Y: next generation sequencing in search of genetic primary renal disease diagnoses in young CKD/ESRD patients

van Eerde A.M., Peters E.D.J., Renkema K.Y., Elferink M.G., van Zon P.H.A, van der Zwaag B., Lilien M.R., de Borst M.H., van Haaften G.W., Giles R.H., Navis G.J., Knoers V.V.A.M. 11 Sep 2014,

INTRODUCTION OF GENE PANELS IN DNA DIAGNOSTICS FOR EPILEPSY

van Kempen M., Brilstra E., van der Zwaag B., Verbeek N., Elferink M., Jansen F., van Zon P., Lindhout D., van Amstel Ploos H. K. Jun 2014, In: Epilepsia. 55 , p. 218-218

Non-invasive prenatal testing for fetal trisomies: avalidation study using the SOLiD Wildfire platform

Elferink M.G., de Bruijn E., Akkermans O., van Tuil M.C., Kusters K.A., Page - 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. 31 May 2014,

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

Elferink M.G., van Zon P.H.A, Akkermans O., Kusters K.A., van Haren-van 't Woud W., Page-Christiaens G.C.M.L., Lichtenbelt K.D., van Kempen M.J.A., Nijman I.J., van Haaften G.W., van der Zwaag B., Cuppen E.P.J.G. 31 May 2014,

Thank you for your review!

Has this information helped you?

Please tell us why, so that we can improve our website.

Working at UMC Utrecht

Contact

Emergency?

Directions

Appointments

Practical

umcutrecht.nl uses cookies

This website uses cookies This website displays videos from, among others, YouTube. Such parties place cookies (third-party cookies). If you do not want these cookies, you can indicate that here. We also place cookies ourselves to improve our site.

Read more about the cookie policy

Agree No, rather not