Mariet Elting

DR.

20092019

Research output per year

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Research Output

Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers

van Gaalen, J., Maas, R. P. P. W. M., Ippel, E. F., Elting, M. W., van Spaendonck-Zwarts, K. Y., Vermeer, S., Verschuuren-Bemelmans, C., Timmann, D. & van de Warrenburg, B. P., 4 Feb 2019, In : Experimental Brain Research. 237, 2, p. 427-433

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Horn, S., Au, M., Basel-Salmon, L., Bayrak-Toydemir, P., Chapin, A., Cohen, L., Elting, M. W., Graham, J. M., Gonzaga-Jauregui, C., Konen, O., Holzer, M., Lemke, J., Miller, C. E., Rey, L. K., Wolf, N. I., Weiss, M. M., Waisfisz, Q., Mirzaa, G. M., Wieczorek, D., Sticht, H. & 1 others, Jamra, R. A., 1 Nov 2019, In : Brain. 142, 11, p. 3351-3359 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E. & 6 others, Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G. & Micha, D., Oct 2019, In : European Journal of Human Genetics. 27, p. 1293-1293

Research output: Contribution to journalMeeting AbstractAcademic

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation

Alsters, S., Wong, L., Peferoen, L., Niessen, H. W. M., Bikker, H., Elting, M. W. & Houweling, A. C., 1 May 2019, In : Netherlands Heart Journal. 27, 5, p. 282-283 2 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E. & 31 others, Hakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Arboleda, V. A. & The DDD Study, 1 Apr 2019, In : Genetics in Medicine. 21, 4, p. 850-860

Research output: Contribution to journalArticleAcademicpeer-review