20132020

Research output per year

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Research Output

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, PROPANE Study Grp, 2 Sep 2020, In : PLOS ONE. 15, 9, 15 p., 0238467.

Research output: Contribution to journalArticleAcademicpeer-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, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec 2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

Research output: Contribution to journalArticleAcademicpeer-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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

Open Access
Open Access