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

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

Researcher/Postdoc

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Research Output (39)

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

Ramirez-Martinez Andres, Zhang Yichi, van den Boogaard Marie-Jose, McAnally John R, Rodriguez-Caycedo Cristina, Chai Andreas C, Chemello Francesco, Massink Maarten Pg, Cuppen Inge, Elferink Martin G, van Es Robert Jj, Janssen Nard G, Walraven-van Oijen Linda Pam, Liu Ning, Bassel-Duby Rhonda, van Jaarsveld Richard H, Olson Eric N 1 Jun 2022, In: Journal of Clinical Investigation. 132 , p. 1-11

Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype

Snoek Rozemarijn, Claus Laura R., Peters Edith D. J., Savelberg Sanne M. C., Duran Karen, van der Veen Suzanne W., Brummelhuis Walter J., Rookmaaker Maarten, van der Zwaag Bert, Nguyen Tri Q., Broekhuizen Roel, Mesnard Laurent, Karras Alexandre, Sadeghi-Alavijeh Omid, Gale Daniel P., Elferink Martin, Oud Machteld M., Faber Siebren, Roepman Ronald, Hildebrandt Friedhelm, Klambt Verena, Knoers Nine V. A. M., Tessadori Federico, van Haaften Gijs W., van Eerde Albertien M. Apr 2022, In: European Journal of Human Genetics. 30 , p. 78-78

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

Genetics-first approach improves diagnostics of ESKD patients <50 years old

Snoek Rozemarijn, van Jaarsveld Richard H, Nguyen Tri Q, Peters Edith D J, Elferink Martin G, Ernst Robert F, Rookmaaker Maarten B, Lilien Marc R, Spierings Eric, Goldschmeding Roel, Knoers Nine V A M, van der Zwaag Bert, van Zuilen Arjan D, van Eerde Albertien M 11 Dec 2020, In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37 , p. 349-357 9 p.

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. Oct 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 May 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 Oct 2017,

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