Research output per year
Research output per year
- 16 results
Search results
-
2024
Impact of benzo[a]pyrene, PCB153 and sex hormones on human ESC-Derived thyroid follicles using single cell transcriptomics
Nazzari, M., Romitti, M., Kip, A. M., Kamps, R., Costagliola, S., van de Beucken, T., Moroni, L. & Caiment, F., 1 Jun 2024, In: Environment International. 188, 14 p., 108748.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
LNC-ing Genetics in Mitochondrial Disease
Kamps, R. & Robinson, E. L., 15 Nov 2024, In: Non-coding RNA. 10, 6, 9 p., 57.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
2023
Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup
Vallbona-Garcia, A., Lindsey, P. J., Kamps, R., Stassen, A. P. M., Nguyen, N., van Tienen, F. H. J., Hamers, I. H. J., Hardij, R., van Gisbergen, M. W., Benedikter, B. J., de Coo, I. F. M., Webers, C. A. B., Gorgels, T. G. M. F. & Smeets, H. J. M., 1 Jan 2023, In: Frontiers in Ophthalmology. 3, 1309836.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-review
Open AccessFile78 Downloads (Pure) -
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 journal › Article › Academic › peer-review
Open AccessFile188 Downloads (Pure) -
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, OCT, 17 p., 400.Research output: Contribution to journal › Article › Academic › peer-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 journal › Article › Academic › peer-review
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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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-review
Open Access -
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, H. J. M., 1 Dec 2016, In: Genetics. 204, 4, p. 1423-1431 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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, NOV, 8 p., 203.Research output: Contribution to journal › Article › Academic › peer-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. 41108-41122Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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, , Sept 2015, In: European Journal of Human Genetics. 23, 9, p. 1142-1150Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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 journal › Article › Academic › peer-review
Open Access -
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. 2495-2508Research output: Contribution to journal › Article › Academic › peer-review
Open Access