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Research Output 2004 2019

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

Hestand, M. S., Bessem, M., van Rijn, P., de Menezes, R. X., Sie, D., Bakker, I., Boon, E. M. J., Sistermans, E. A. & Weiss, M. M., 1 Feb 2019, In : European Journal of Human Genetics. 27, 2, p. 198-202 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics

Straver, R., 2018, 184 p.

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

Paff, T., Kooi, I. E., Moutaouakil, Y., Riesebos, E., Sistermans, E. A., Daniels, H. J. M. A., Weiss, J. M. M., Niessen, H. H. W. M., Haarman, E. G., Pals, G. & Micha, D., 1 May 2018, In : Human Mutation. 39, 5, p. 653-665 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genetics of intellectual ability and disability: The importance of common variants and rare syndromes illustrated by studies of SNAP25 and AUTS2

Beunders, G., 2018, 160 p.

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

Huijsdens-van Amsterdam, K., Page-Christiaens, L., Flowers, N., Bonifacio, M. D., Ellis, K. M. B., Vogel, I., Vestergaard, E. M., Miguelez, J., de Carvalho, M. H. B., Sistermans, E. A. & Pertile, M. D., 2018, In : European Journal of Human Genetics. 26, 10, p. 1490-1496

Research output: Contribution to journalArticleAcademicpeer-review