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Martin Elferink

Research Analyst

Contact

melferin@umcutrecht.nl
Pure profile

Recent publications

All publications
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy Maria M. Zwartkruis, Joris V. Kortooms, Demi Gommers, Martin G. Elferink, Ilaria Signoria, Joyce van der Sel, Paul J. Hop, Ramona A.J. Zwamborn, Robin Geene, Jared W. Green, Hanneke W.M. van Deutekom, Wouter van Rheenen, Jan H. Veldink, Fay Lynn Asselman, Renske I. Wadman, W. Ludo van der Pol, Gijs W. van Haaften, Ewout J.N. Groen
iScience, 2025, vol. 28
A de novo deletion underlying spinal muscular atrophy Maria M Zwartkruis, Mirjam S de Pagter, Demi Gommers, Marije Koopmans, Cecile P E Ottenheim, Joris V Kortooms, Mirjan Albring, Martin G Elferink, Renske I Wadman, Fay-Lynn Asselman, Inge Cuppen, W Ludo van der Pol, Marcel R Nelen, Gijs W van Haaften, Ewout J N Groen
Human molecular genetics, 2025, vol. 34, p.894–904
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy M M Zwartkruis, M G Elferink, D Gommers, I Signoria, L Blasco-Pérez, M Costa-Roger, J van der Sel, I J Renkens, J W Green, J V Kortooms, C Vermeulen, R Straver, H W M van Deutekom, J H Veldink, F Asselman, E F Tizzano, R I Wadman, W L van der Pol, G W van Haaften, E J N Groen
Genome Medicine, 2025, vol. 17
Differences in patient- and tumor characteristics, treatment and survival between patients with screen-detected versus clinically detected colorectal peritoneal metastases L. J.K. Galanos, A. Rijken, M. A.G. Elferink, D. Boerma, A. Brandt-Kerkhof, P. R. de Reuver, J. B. Tuynman, N. F.M. Kok, P. H.J. Hemmer, W. M.U. van Grevenstein, C. Huysentruyt, F. N. van Erning, I. H.J.T. de Hingh
European Journal of Surgical Oncology, 2025, vol. 51
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease Laura R. Claus, Robert F. Ernst, Martin G. Elferink, Hanneke W.M. van Deutekom, Bert van der Zwaag, Albertien M. van Eerde
Kidney International Reports, 2024, vol. 9, p.2695-2704
Author Correction Alessio Marcozzi, Myrthe Jager, Martin Elferink, Roy Straver, Joost H van Ginkel, Boris Peltenburg, Li-Ting Chen, Ivo Renkens, Joyce van Kuik, Chris Terhaard, Remco de Bree, Lot A Devriese, Stefan M Willems, Wigard P Kloosterman, Jeroen de Ridder
npj Genomic Medicine, 2023, vol. 8