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Debby Hellebrekers

Drs.

20062020

Research output per year

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Research Output

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Article
2006

Angiostatic activity of DNA methyltransferase inhibitors.

Hellebrekers, D. M. E. I., Jair, K. W., Vire, E., Eguchi, S., Hoebers, N. T. H., Fraga, M. F., Esteller, M., Fuks, F., Baylin, S. B., van Engeland, M. & Griffioen, A. W., 1 Jan 2006, In : Molecular Cancer Therapeutics. 5, 2, p. 467-75

Research output: Contribution to journalArticleAcademicpeer-review

Epigenetic regulation of tumor endothelial cell anergy: silencing of intercellular adhesion molecule-1 by histone modifications.

Hellebrekers, D. M. E. I., Castermans, K. E. R., Vire, E., Dings, R. P. M., Hoebers, N. T. H., Mayo, K. H. T., Oude Egbrink, M. G. A., Molema, G., Fuks, F., van Engeland, M. & Griffioen, A. W., 1 Jan 2006, In : Cancer Research. 66, 22, p. 10770-7

Research output: Contribution to journalArticleAcademicpeer-review

2011

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

Voets, A. M., van den Bosch, B. J. C., Stassen, A. P., Hendrickx, A. T., Hellebrekers, D. M., Van Laer, L., Van Eyken, E., Camp, P. G., Pyle, A., Baudouin, S. V., Chinnery, P. F. & Smeets, H. J. M., Nov 2011, In : Mitochondrion. 11, 6, p. 964-972

Research output: Contribution to journalArticleAcademicpeer-review

2012

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

van den Bosch, B. J. C., Gerards, M., Sluiter, W., Stegmann, A. P. A., Jongen, E. L. C., Hellebrekers, D. M. E. I., Oegema, R., Lambrichs, E. H., Prokisch, H., Danhauser, K., Schoonderwoerd, K., de Coo, I. F. M. & Smeets, H. J. M., Jan 2012, In : Journal of Medical Genetics. 49, 1, p. 10-5 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

Hellebrekers, D. M. E. I., Wolfe, R., Hendrickx, A. T. M., de Coo, I. F. M., de Die, C. E., Geraedts, J. P. M., Chinnery, P. F. & Smeets, H. J. M., Jul 2012, In : Human Reproduction Update. 18, 4, p. 341-349

Research output: Contribution to journalArticleAcademicpeer-review

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

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
2017

De novo mtDNA point mutations are common and have a low recurrence risk

Sallevelt, S. C. E. H., de Die-Smulders, C. E. M., Hendrickx, A. T. M., Hellebrekers, D. M. E. I., de Coo, I. F. M., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R. & Smeets, H. J. M., Feb 2017, In : Journal of Medical Genetics. 54, 2, p. 114-124 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

Nguyen, M., Boesten, I., Hellebrekers, D. M. E. I., Mulder-den Hartog, N. M., de Coo, I. F. M., Smeets, H. J. M. & Gerards, M., Jan 2017, In : Clinical Genetics. 91, 1, p. 121-125 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 886-888 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Druesedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., Van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J. M. & de Die-Smulders, C. E. M., Mar 2017, In : Human Reproduction. 32, 3, p. 698-703 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

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
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

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

Baertling, F., Sanchez-Caballero, L., van den Brand, M. A. M., Fung, C. -W., Chan, S. H. -S., Wong, V. C. -N., Hellebrekers, D. M. E., de Coo, I. F. M., Smeitink, J. A. M., Rodenburg, R. J. T. & Nijtmans, L. G. J., 1 Jan 2018, In : Clinical Genetics. 93, 1, p. 111-118 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
2019

A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Hellebrekers, D. M. E. I., Blakely, E. L., Hendrickx, A. T. M., Hardy, S. A., Hopton, S., Falkous, G., de Coo, I. F. M., Smeets, H. J. M., van der Beek, N. M. E. & Taylor, R. W., Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 693-697 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2020

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access