R.J. Szklarczyk

Koster, R., Brandao, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Oberstein, S. A. J. L., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., ... Blok, M. J. (2021). Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq. npj Genomic Medicine, 6(1), Article 95. https://doi.org/10.1038/s41525-021-00258-w

Verdonschot, J. A. J., Robinson, E. L., James, K. N., Mohamed, M. W., Claes, G. R. F., Casas, K., Vanhoutte, E. K., Hazebroek, M. R., Kringlen, G., Pasierb, M. M., van den Wijngaard, A., Glatz, J. F. C., Heymans, S. R. B., Krapels, I. P. C., Nahas, S., Brunner, H. G., & Szklarczyk, R. (2020). Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers. Molecular genetics & genomic medicine, 8(2), Article e1049. https://doi.org/10.1002/mgg3.1049

van Dam, T. J. P., Kennedy, J., van der Lee, R., de Vrieze, E., Wunderlich, K. A., Rix, S., Dougherty, G. W., Lambacher, N. J., Li, C., Jensen, V. L., Leroux, M. R., Hjeij, R., Horn, N., Texier, Y., Wissinger, Y., van Reeuwijk, J., Wheway, G., Knapp, B., Scheel, J. F., ... Huynen, M. A. (2019). CiliaCarta: An integrated and validated compendium of ciliary genes. PLOS ONE, 14(5), Article 0216705. https://doi.org/10.1371/journal.pone.0216705

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. (2018). Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. Frontiers in Genetics, 9(OCT), Article 400. https://doi.org/10.3389/fgene.2018.00400

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. (2018). Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. European Journal of Human Genetics, 26(4), 537-551. https://doi.org/10.1038/s41431-017-0058-2

Theunissen, T. E. J., Gerards, M., Hellebrekers, D. M. E. I., van Tienen, F. H., Kamps, R., Sallevelt, S. C. E. H., Hartog, E. N. M. M. .-D., Scholte, H. R., Verdijk, R. M., Schoonderwoerd, K., de Coo, I. F. M., Szklarczyk, R., & Smeets, H. J. M. (2017). Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect. Frontiers in molecular neuroscience, 10, Article 336. https://doi.org/10.3389/fnmol.2017.00336

Sallevelt, S. C. E. H., de Koning, B., Szklarczyk, R., Paulussen, A. D. C., de Die-Smulders, C. E. M., & Smeets, H. J. M. (2017). A comprehensive strategy for exome-based preconception carrier screening. Genetics in Medicine, 19(5), 583-592. https://doi.org/10.1038/gim.2016.153

Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M. M.-D., de Coo, I. F. M., & Smeets, H. J. M. (2017). Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. The Journal of Pediatrics, 182, 371-374. https://doi.org/10.1016/j.jpeds.2016.12.032

Kapetis, D., Sassone, J., Yang, Y., Galbardi, B., Xenakis, M. N., Westra, R. L., Szklarczyk, R., Lindsey, P., Faber, C. G., Gerrits, M., Merkies, I. S. J., Dib-Hajj, S. D., Mantegazza, M., Waxman, S. G., PROPANE Study Grp, J.M. Smeets, H., & Lauria, G. (2017). Network topology of NaV1.7 mutations in sodium channel-related painful disorders. BMC Systems Biology, 11(1), Article 28. https://doi.org/10.1186/s12918-016-0382-0

Seco, C. Z., Castells-Nobau, A., Joo, S., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjaerg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., ... Siddiqi, S. (2017). A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Disease Models & Mechanisms, 10(2), 105-118. https://doi.org/10.1242/dmm.026476