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Merryn Macville

20102019

Research output per year

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Research Output

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., de Die-Smulders, C. E. M., Duin, L. K., Faas, B. H. W., Feenstra, I., Haak, M. C., Hoffer, M. J. V., den Hollander, N. S., Hollink, I. H. I. M., Jehee, F. S., Knapen, M. F. C. M. & 21 others, Kooper, A. J. A., van Langen, I. M., Lichtenbelt, K. D., Linskens, I. H., van Maarle, M. C., Oepkes, D., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D. F. C. M., Srebniak, M. I., Suijkerbuijk, R. F., Tan-Sindhunata, G. M., van der Ven, A. J. E. M., van Zelderen-Bhola, S. L., Henneman, L., Galjaard, R-J. H., Van Opstal, D., Weiss, M. M. & Dutch NIPT Consortium, 5 Dec 2019, In : American Journal of Human Genetics. 105, 6, p. 1091-1101 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Van Opstal, D., van Maarle, M. C., Lichtenbelt, K., Weiss, M. M., Schuring-Blom, H., Bhola, S. L., Hoffer, M. J. V., Huijsdens-van Amsterdam, K., Macville, M. V., Kooper, A. J. A., Faas, B. H. W., Govaerts, L., Tan-Sindhunata, G. M., den Hollander, N., Feenstra, I., Galjaard, R-J. H., Oepkes, D., Ghesquiere, S., Brouwer, R. W. W., Beulen, L. & 7 others, Bollen, S., Elferink, M. G., Straver, R., Henneman, L., Page-Christiaens, G. C., Sistermans, E. A. & Dutch NIPT Consortium, 1 May 2018, In : Genetics in Medicine. 20, 5, p. 480-485 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

van Schendel, R. V., Page-Christiaens, G. C. M. L., Beulen, L., Bilardo, C. M., de Boer, M. A., Coumans, A. B. C., Faas, B. H. W., van Langen, I. M., Lichtenbelt, K. D., van Maarle, M. C., Macville, M. V. E., Oepkes, D., Pajkrt, E., Henneman, L. & Dutch NIPT Consortium, Dec 2017, In : Journal of Genetic Counseling. 26, 6, p. 1348-1356 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact

Oepkes, D., Page-Christiaens, G. C. L., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Schuring-Blom, G. H., Coumans, A. B. C., Faas, B. H., Galjaard, R-J. H., Go, A. T., Henneman, L., Macville, M. V. E., Pajkrt, E., Suijkerbuijk, R. F., Huijsdens-van Amsterdam, K., Van Opstal, D., Verweij, E. J. J., Weiss, M. M. & Sistermans, E. A., Dec 2016, In : Prenatal Diagnosis. 36, 12, p. 1083-1090

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
4 Citations (Scopus)