Research output per year
Research output per year
- 16 results
Search results
-
2024
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study
Heesterbeek, C. J., Tjan-Heijnen, V. C. G., the Dutch NIPT Consortium, Heimovaara, J. H., Lenaerts, L., Lok, C., Vriens, I. J. H., Van Opstal, D., Boon, E. M. J., Sie, D., de Die-Smulders, C. E. M., Amant, F. & Macville, M. V. E., Oct 2024, In: The Lancet Regional Health - Europe. 45, 101024.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)1 Downloads (Pure) -
Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation
Billar, R., Heyman, S., Kant, S., Wijnen, R., Sleutels, F., Demirdas, S. & Schnater, J. M., 1 Aug 2024, In: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie. 34, 4, p. 325-332 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Genomics England Research Consortium, Claus, L. R., Chen, C., Stallworth, J., Turner, J. L., Slaats, G. G., Hawks, A. L., Mabillard, H., Senum, S. R., Srikanth, S., Flanagan-Steet, H., Louie, R. J., Silver, J., Lerner-Ellis, J., Morel, C., Mighton, C., Sleutels, F., van Slegtenhorst, M., van Ham, T. & Brooks, A. S. & 31 others, , Nov 2023, In: Kidney International. 104, 5, p. 995-1007 13 p.Research output: Contribution to journal › Article › Academic › peer-review
6 Citations (Scopus) -
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
Smits, D. J., Schot, R., Popescu, C. A., Dias, K. R., Ades, L., Briere, L. C., Sweetser, D. A., Kushima, I., Aleksic, B., Khan, S., Karageorgou, V., Ordonez, N., Sleutels, F. J. G. T., van der Kaay, D. C. M., Van Mol, C., Van Esch, H., Bertoli-Avella, A. M., Roscioli, T. & Mancini, G. M. S., Jul 2023, In: Human Genetics. 142, 7, p. 949-964 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)24 Downloads (Pure) -
2021
CTCF chromatin residence time controls three-dimensional genome organization, gene expression and DNA methylation in pluripotent cells
Soochit, W., Sleutels, F., Stik, G., Bartkuhn, M., Basu, S., Hernandez, S. C., Merzouk, S., Vidal, E., Boers, R., Boers, J., van der Reijden, M., Geverts, B., van Cappellen, W. A., van den Hout, M., Ozgur, Z., van IJcken, W. F. J., Gribnau, J., Renkawitz, R., Graf, T. & Houtsmuller, A. & 3 others, , 29 Jul 2021, In: Nature Cell Biology. 23, 8, p. 881-893 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access27 Citations (Scopus) -
2019
G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population
Wisnumurti, D., Sribudiani, Y., Porsch, R., Maskoen, A., Rahayuningsih, S., Asni, E., Sleutels, F., van Ijcken, W., Sukadi, A. & Achmad, T., 2019, In: BMC Pediatrics. 19, 1, 506.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Citations (Scopus)22 Downloads (Pure) -
2018
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results
van Amsterdam, K., Straver, R., van Maarle, M., Knegt, A., van Opstal, D., Sleutels, F., Smeets, D. & Sistermans, E., 2018, In: Genetics in Medicine. 20, 11, p. 1472-1476 5 p.Research output: Contribution to journal › Article › Academic › peer-review
14 Citations (Scopus) -
Nimbus: a design-driven analyses suite for amplicon-based NGS data
Brouwer, R., Van den Hout - van Vroonhoven, M., Kockx, C., Brosens, E., Eussen, H., de Klein, A., Sleutels, F. & van Ijcken, W., 2018, In: Bioinformatics. 34, 16, p. 2732-2739 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)26 Downloads (Pure) -
UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population
Wisnumurti, D., Sribudiani, Y., Porsch, R., Maskoen, A., Abdulhamied, L., Rahayuningsih, S., Asni, E., Sleutels, F., Kockx, C., van Ijcken, W., Sukadi, A. & Achmad, T., 2018, In: BioMed Research International. 9425843.Research output: Contribution to journal › Article › Academic › peer-review
8 Citations (Scopus) -
2017
Fungal volatile compounds induce production of the secondary metabolite Sodorifen in Serratia plymuthica PRI-2C
Schmidt, R., de Jager, V., Zuhlke, D., Wolff, C., Bernhardt, J., Cankar, K., Beekwilder, J., van Ijcken, W., Sleutels, F., de Boer, W., Riedel, K. & Garbeva, P., 2017, In: Scientific Reports. 7, 862.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile101 Citations (Scopus)17 Downloads (Pure) -
2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D., Van den Hout - van Vroonhoven, M., van Hove, S., Johansson, L., Jongbloed, J., Kamps, R., Kockx, C. & de Koning, B. & 28 others, , 2015, In: European Journal of Human Genetics. 23, 9, p. 1142-1150 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile57 Citations (Scopus)14 Downloads (Pure) -
2012
The male germ cell gene regulator CTCFL is functionally different from CTCF and binds CTCF-like consensus sites in a nucleosome composition-dependent manner
Sleutels, F., Soochit, W., Bartkuhn, M., Heath, H., Dienstbach, S., Bergmaier, P., Franke, V., Rosa-Garrido, M., van de Nobelen, S., Caesar, L., Reijden, M., Bryne, J., van Ijcken, W., Grootegoed, A., Delgado, M., Lenhard, B., Renkawitz, R., Grosveld, F. & Galjart, N., 2012, In: Epigenetics & Chromatin. 5Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile72 Citations (Scopus)21 Downloads (Pure) -
2011
Precise BAC targeting of genetically polymorphic mouse ES cells
Barakat, S., Rentmeester, E., Sleutels, F., Grootegoed, A. & Gribnau, J., 2011, In: Nucleic Acids Research. 39, 18, e121.Research output: Contribution to journal › Article › Academic › peer-review
8 Citations (Scopus) -
2010
CTCF regulates the local epigenetic state of ribosomal DNA repeats
van de Nobelen, S., Rosa-Garrido, M., Leers, J., Heath, H., Soochit, W., Joosen, L., Jonkers, I., Demmers, J., Reijden, M., Torrano, V., Grosveld, F., Delgado, M., Renkawitz, R., Galjart, N. & Sleutels, F., 2010, In: Epigenetics & Chromatin. 3Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile78 Citations (Scopus)25 Downloads (Pure) -
2009
Critical Role for the Transcription Regulator CCCTC-Binding Factor in the Control of Th2 Cytokine Expression
Ribeiro de Almeida, C., Heath, H., Krpic, S., Dingjan, G., Hamburg, J. P., Bergen, I., van de Nobelen, S., Sleutels, F., Grosveld, F., Galjart, N. & Hendriks, R., 2009, In: Journal of Immunology. 182, 2, p. 999-1010 12 p.Research output: Contribution to journal › Article › Academic › peer-review
56 Citations (Scopus) -
2008
CTCF regulates cell cycle progression of alpha beta T cells in the thymus
Heath, H., Ribeiro de Almeida, C., Sleutels, F., Dingjan, G., van de Nobelen, S., Jonkers, I., Ling, K., Gribnau, J., Renkawitz, R., Grosveld, F., Hendriks, R. & Galjart, N., 2008, In: EMBO Journal. 27, 21, p. 2839-2850 12 p.Research output: Contribution to journal › Article › Academic › peer-review
145 Citations (Scopus)