Research output per year
Research output per year
Research output
- 11 Article
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Evaluation of molecular inversion probe versus TruSeq (R) custom methods for targeted next-generation sequencing
Almomani, R., Marchi, M., Sopacua, M., Lindsey, P., Salvi, E., Koning, B. D., Santoro, S., Magri, S., Smeets, H. J. M., Martinelli Boneschi, F., Malik, R. R., Ziegler, D., Hoeijmakers, J. G. J., Boenhof, G., Dib-Hajj, S., Waxman, S. G., Merkies, I. S. J., Lauria, G., Faber, C. G., Gerrits, M. M. & 1 others, , 2 Sep 2020, In: PLOS ONE. 15, 9, 15 p., 0238467.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T. & 3 others, , Dec 2019, In: Human Mutation. 40, 12, p. 2230-2238 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In: European Journal of Human Genetics. 26, 4, p. 537-551 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In: Frontiers in Genetics. 9, 17 p., 400.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
A comprehensive strategy for exome-based preconception carrier screening
Sallevelt, S. C. E. H., de Koning, B., Szklarczyk, R., Paulussen, A. D. C., de Die-Smulders, C. E. M. & Smeets, H. J. M., May 2017, In: Genetics in Medicine. 19, 5, p. 583-592 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access