No photo of Debby Hellebrekers

Debby Hellebrekers

Drs.

20062019

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

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

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

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