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  • Universiteitssingel50, UNS50

    6229 ER Maastricht

    Netherlands

20102020

Research output per year

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Research Output

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Article
2020

TfamKnockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

Otten, A. B. C., Kamps, R., Lindsey, P., Gerards, M., Pendeville-Samain, H., Muller, M., van Tienen, F. H. J. & Smeets, H. J. M., 12 Jun 2020, In : Frontiers in Cell and Developmental Biology. 8, 11 p., 381.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

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

Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance

Geraets, I. M. E., Chanda, D., van Tienen, F. H. J., van den Wijngaard, A., Kamps, R., Neumann, D., Liu, Y., Glatz, J. F. C., Luiken, J. J. F. P. & Nabben, M., 1 May 2018, In : Biochimica et Biophysica Acta-Molecular Basis of Disease. 1864, 5, p. 1960-1967 8 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
2017

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

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., Mar 2017, In : The Journal of Pediatrics. 182, p. 371-374 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

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., 18 Oct 2017, In : Frontiers in molecular neuroscience. 10, 12 p., 336.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Nguyen, M., Boesten, I. B. W., Hellebrekers, D. M. E. I., Vanoevelen, J., Kamps, R., de Koning, B., de Coo, I. F. M., Gerards, M. & Smeets, H. J. M., Apr 2016, In : European Journal of Human Genetics. 24, 4, p. 619-622 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number

Otten, A. B. C., Stassen, A. P. M., Adriaens, M., Gerards, M., Dohmen, R. G. J., Timmer, A. J., Vanherle, S. J. V., Kamps, R., Boesten, I. B. W., Vanoevelen, J. M., Muller, M. & Smeets, B., Dec 2016, In : Genetics. 204, 4, p. 1423-1431 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Theunissen, T. E. J., Szklarczyk, R., Gerards, M., Hellebrekers, D. M. E. I., Mulder-Den Hartog, E. N. M., Vanoevelen, J., Kamps, R., de Koning, B., Rutledge, S. L., Schmitt-Mechelke, T., Van Berkel, C. G. M., van der Knaap, M. S., de Coo, I. F. M. & Smeets, H. J. M., 16 Nov 2016, In : Frontiers in Neurology. 7, 8 p., 203.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2015

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

Jori, B., Kamps, R., Xanthoulea, S., Delvoux, B., Blok, M. J., Van de Vijver, K. K., de Koning, B., Oei, F. T., Tops, C. M., Speel, E. J. M., Kruitwagen, R. F., Gomez-Garcia, E. B. & Romano, A., 1 Dec 2015, In : Oncotarget. 6, 38, p. 41108-41122

Research output: Contribution to journalArticleAcademicpeer-review

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J. J., van den Hout, M. C. G. N., van Hove, S., Johansson, L. F., Jongbloed, J. D. H., Kamps, R., Kockx, C. E. M., de Koning, B. & 28 others, Kriek, M., Deprez, R. L. D., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Weiss, J. M., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van IJcken, W. F. J., den Dunnen, J., Veltman, J. A., Hennekam, R. & Cuppen, E., Sep 2015, In : European Journal of Human Genetics. 23, 9, p. 1142-1150

Research output: Contribution to journalArticleAcademicpeer-review

2013

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

Gerards, M., Kamps, R., van Oevelen, J., Boesten, I., Jongen, E., de Koning, B., Scholte, H. R., de Angst, I., Schoonderwoerd, K., Sefiani, A., Ratbi, I., Coppieters, W., Karim, L., de Coo, R., van den Bosch, B. & Smeets, H., Mar 2013, In : Brain. 136, Pt 3, p. 882-90 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

2010

Olfactomedin-4 Regulation by Estrogen in the Human Endometrium Requires Epidermal Growth Factor Signaling

Dassen, H., Punyadeera, C., Delvoux, B., Schulkens, I. A., Marchetti, C., Kamps, R., Klomp, J. P. G., Dijcks, F., de Goeij, A. F. P. M., D'Hooghe, T., Kyama, C., Ederveen, A., Dunselman, G., Groothuis, P. & Romano, A., Nov 2010, In : American Journal of Pathology. 177, 5, p. 2495-2508

Research output: Contribution to journalArticleAcademicpeer-review