Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype
Claus, L. R., Snoek, R., Faber, S., Roskothen-Shevchuk, A. J. C., Sendino Garví, E., Peters, E. D. J., Savelberg, S. M. C., Duran, K., van der Zwaag, B., Nguyen, T. Q., Broekhuizen, R., Brummelhuis, W. J., Rookmaaker, M., van der Veen, S. W., Elferink, M. G., Karras, A., Raymond, L., Mousseaux, C., Sadeghi-Alavijeh, O. & Sayer, J. A. & 15 others, , Apr 2026, In: Nephron. 150, 4, p. 210-227 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
Zwartkruis, M. M., de Pagter, M. S., Gommers, D., Koopmans, M., Ottenheim, C. P. E., Kortooms, J. V., Albring, M., Elferink, M. G., Wadman, R. I., Asselman, F.-L., Cuppen, I., van der Pol, W. L., Nelen, M. R., van Haaften, G. W. & Groen, E. J. N., 15 May 2025, In: Human molecular genetics. 34, 10, p. 894–904 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Downloads (Pure) -
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Zwartkruis, M. M., Kortooms, J. V., Gommers, D., Elferink, M. G., Signoria, I., van der Sel, J., Hop, P. J., Zwamborn, R. A. J., Geene, R., Green, J. W., van Deutekom, H. W. M., van Rheenen, W., Veldink, J. H., Asselman, F. L., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 16 May 2025, In: iScience. 28, 5, 112461.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Downloads (Pure) -
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy
Zwartkruis, M. M., Elferink, M. G., Gommers, D., Signoria, I., Blasco-Pérez, L., Costa-Roger, M., van der Sel, J., Renkens, I. J., Green, J. W., Kortooms, J. V., Vermeulen, C., Straver, R., van Deutekom, H. W. M., Veldink, J. H., Asselman, F., Tizzano, E. F., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 21 Mar 2025, In: Genome Medicine. 17, 1, 26.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile29 Downloads (Pure) -
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
Claus, L. R., Ernst, R. F., Elferink, M. G., van Deutekom, H. W. M., van der Zwaag, B. & van Eerde, A. M., Sept 2024, In: Kidney International Reports. 9, 9, p. 2695-2704 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure)
Activities
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Multiplex CRISPR-Cas enrichment of clinically relevant genomic repeat structures
Elferink, M. (Speaker)
28 Nov 2018Activity: Talk or presentation › Invited talk › Academic
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HGVS 2016
Elferink, M. (Speaker)
20 May 2016Activity: Participating in or organising an event › Participation in conference › Academic
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Vereniging van Fertiliteitartsen)
Elferink, M. (Invited speaker)
26 Mar 2015Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic
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Kwaliteitsborging van informatiesystemen in laboratoria
Elferink, M. (Participant)
19 Feb 2015 → 20 Feb 2015Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic
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ISO15189: 2012 Praktisch interpreteren
Elferink, M. (Participant)
23 Jan 2015Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic