Mahdi Motazacker

Research activity per year

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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

Laboratory Specialist in Clinical Genetics (Human Molecular Genetics)

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):

1 Active

Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J., Krzyzewska, I., Li Yim, A., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R., Lombardi, P., Mook, O., Motazacker, M. & Redeker, B.
1/02/2007 → …
Project: Research

52 Article
3 Comment/Letter to the editor
1 Editorial
1 Review article

Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties
el Ghaleb, Y., Fernandez-Quintero, M. L., Campiglio, M., Liedl, K. R., Plomp, A. S., Bakker, D. P., Motazacker, M. M., Kortüm, F., Höing, A-S., Kutsche, K. & Flucher, B. E., 10 Feb 2023, In: Biophysical Journal. 122, 3S1, p. 107a
Research output: Contribution to journal › Article › Academic › peer-review
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., 1 Jul 2022, In: Leukemia. 36, 7, p. 1935-1938 4 p.
Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)
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 othersSterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Au, P. Y. B., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., Braakman, H. M. H., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., le, N. M., Christensen, J., Grønborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B. N., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J. M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M. C., Destrée, A., Schoonjans, A. S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W. H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. & Møller, R. S., 14 Sept 2022, In: Brain. 145, 9, p. 2991-3009 19 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

33 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 othersSanten, G. W. E., Ruivenkamp, C. A. L., Alders, M., Luperchio, T. R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G. B., Bonasio, R., Doheny, K. F., Stevenson, R. E., Banka, S., Sadikovic, B. & Fahrner, J. A., 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
van Walree, E. S., Wyrwoll, M. J., 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. 37, 1, p. 178-189 12 p.
Research output: Contribution to journal › Article › Academic › peer-review

17 Citations (Scopus)

Mahdi Motazacker

Personal profile

Research interests

specialisation

Expertise related to UN Sustainable Development Goals

Collaborations and top research areas from the last five years

Dive into details

Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations

Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties

Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

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)

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

Mahdi Motazacker

Personal profile

Research interests

specialisation

Expertise related to UN Sustainable Development Goals

Collaborations and top research areas from the last five years

Projects

Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations

Research output

Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties

Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

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)

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes