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Martin Elferink

Research Analyst

Contact

melferin@umcutrecht.nl
Pure profile

Recent publications

All publications
Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity Esmée van Drie, Freyja H M van Lint, Rob Zwart, Jie Wang, Yucheng Chen, Alex V Postma, Martin G Elferink, Joris J M van Steenbrugge, Paul A van der Zwaag, Jan D H Jongbloed, Dennis Dooijes, Myrthe Y C van der Heide, Arjan C Houweling, Kristina H Haugaa, Ida Skrinde Leren, Anna Kostareva, Hendrik Milting, Thuy Vy Nguyen, Thuy Duong Ho Huynh, Philippe Chevalier, Antoine Delinière, Juan R Gimeno-Blanes, María Sabater-Molina, Roberto Barriales-Villa, Andrea Mazzanti, Mirella Memmi, Yuki Kuramoto, Tomoka Tabata, Arthur A M Wilde, Karin Y van Spaendonck-Zwarts, J Peter van Tintelen
Journal of Cardiovascular Translational Research, 2026, vol. 19
Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype Laura R Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk, Elena Sendino Garví, Edith D J Peters, Sanne M C Savelberg, Karen Duran, Bert van der Zwaag, Tri Q Nguyen, Roel Broekhuizen, Walter J Brummelhuis, Maarten Rookmaaker, Suzanne W van der Veen, Martin G Elferink, Alexandre Karras, Laure Raymond, Cyril Mousseaux, Omid Sadeghi-Alavijeh, John A Sayer, Eric Olinger, Ruxandra Neatu, Verena Klämbt, Marijn F Stokman, Nine V A M Knoers, Federico Tessadori, Daniel P Gale, Karsten Boldt, Marius Ueffing, Gisela G Slaats, Ronald Roepman, Friedhelm Hildebrandt, Laurent Mesnard, Gijs van Haaften, Albertien M van Eerde
Nephron, 2025, vol. 150, p.210-227
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