Projects per year
Personal profile
Research interests
Application of next-generation sequencing (genome, exome and targeted sequencing) in patient care with focus on intellectual disability/developmental delay, epilepsy, cardiovascular diseases and genetics of CLL.
Specialisation
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Network
Projects
- 1 Active
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Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J. B. M., Krzyzewska, I. M., Li Yim, A. Y. F., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R. H., Lombardi, P. P. R., Mook, O. R. F., Motazacker, M. M. & Redeker, B. J. W.
1/02/2007 → …
Project: Research
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Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110
Hengeveld, P. J., Ertem, Y. E., Dubois, J. M. N., Mellink, C. H. M., van der Kevie-Kersemaekers, A-M., Evers, L. M., Heezen, K., Kolijn, P. M., Mook, O. R. F., Motazacker, M. M., Nasserinejad, K., Kersting, S., Westerweel, P. E., Niemann, C. U., Kater, A. P., Langerak, A. W. & Levin, M-D., Jul 2022, In: Leukemia. 36, 7, p. 1935-1938 4 p.Research output: Contribution to Journal › Article › Academic › peer-review
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., & 109 others , 14 Sep 2022, In: Brain. 145, 9, p. 2991-3009 19 p.Research output: Contribution to Journal › Article › Academic › peer-review
Open Access17 Citations (Scopus) -
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)
Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 others , 1 Dec 2021, In: NPJ GENOMIC MEDICINE. 6, 1, 100.Research output: Contribution to Journal › Comment / Letter to the editor › Academic
Open Access -
Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes
Wyrwoll, M. J., van Walree, E. S., Hamer, G., Rotte, N., Motazacker, M. M., Meijers-Heijboer, H., Alders, M., Meißner, A., Kaminsky, E., Wöste, M., Krallmann, C., Kliesch, S., Hunt, T. J., Clark, A. T., Silber, S., Stallmeyer, B., Friedrich, C., van Pelt, A. M. M., Mathijssen, I. B. & Tüttelmann, F., 27 Dec 2021, In: Human reproduction (Oxford, England). 37, 1, p. 178-189 12 p.Research output: Contribution to Journal › Article › Academic › peer-review
6 Citations (Scopus) -
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 others , 1 Dec 2021, In: NPJ GENOMIC MEDICINE. 6, 1, 92.Research output: Contribution to Journal › Article › Academic › peer-review
Open Access5 Citations (Scopus)