Research output per year
Research output 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
Laboratory Specialist in Clinical Genetics (Human Molecular Genetics)
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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 Access -
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
UCLA Clinical Genomics Center, 1 Jul 2021, In: American journal of human genetics. 108, 7, p. 1330-1341 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
Reeskamp, L. F., Balvers, M., Peter, J., van de Kerkhof, L., Klaaijsen, L. N., Motazacker, M. M., Grefhorst, A., van Riel, N. A. W., Hovingh, G. K., Defesche, J. C. & Zuurbier, L., 1 Mar 2021, In: Atherosclerosis. 321, p. 14-20 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Undiagnosed Diseases Network, 1 Jul 2021, In: Human genetics. 140, 7, p. 1109-1120 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Jeanne, M. D., Demory, H. L., Moutal, A., Vuillaume, M-L., Blesson, S., Thépault, R-A., Marouillat, S., Halewa, J., Maas, S. M., Motazacker, M. M., Mancini, G. M. S., van Slegtenhorst, M. A., Andreou, A., Cox, H., Vogt, J., Laufman, J., Kostandyan, N., Babikyan, D., Hancarova, M., Bendova, S. & 21 others, , 6 May 2021, In: American journal of human genetics. 108, 5, p. 951-961 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access