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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, , 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100521.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Downloads (Pure) -
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
Ghasempour, S., Warner, N., Guan, R., Rodari, M. M., Ivanochko, D., Whittaker Hawkins, R., Marwaha, A., Nowak, J. K., Liang, Y., Mulder, D. J., Stallard, L., Li, M., Yu, D. D., Pluthero, F. G., Batura, V., Zhao, M., Siddiqui, I., Upton, J. E. M., Hulst, J. M. & Kahr, W. H. A. & 21 others, , 11 Nov 2024, In: The Journal of experimental medicine. 221, 12, 19 p., e20240546.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)27 Downloads (Pure) -
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
Smits, D. J., Dekker, J., Douben, H., Schot, R., Magee, H., Bakhtiari, S., Koehler, K., Huebner, A., Schuelke, M., Darvish, H., Vosoogh, S., Tafakhori, A., Jameie, M., Taghiabadi, E., Wilson, Y., Shah, M., van Slegtenhorst, M. A., Medici-van den Herik, E. G., van Ham, T. J. & Kruer, M. C. & 1 others, , 10 Oct 2024, In: Human Genetics and Genomics Advances. 5, 4, 100327.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)81 Downloads (Pure) -
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
Douben, H., Hoogeveen-Westerveld, M., Nellist, M., Louwen, J., Haan, M. K. D., Punt, M., Van Ommeren, B., Van Unen, L., Elfferich, P., Kasteleijn, E., Van Bever, Y., Van Vliet, M., Oostenbrink, R., Saris, J. J., Wagner, A., Van Ierland, Y., Van Ham, T. & Van Minkelen, R., 15 Feb 2023, In: Human Mutation. 2023, 9628049.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)86 Downloads (Pure) -
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, J., Schot, R., Bongaerts, M., de Valk, W. G., van Veghel-Plandsoen, M. M., Monfils, K., Douben, H., Elfferich, P., Kasteleijn, E., van Unen, L. M. A., Geeven, G., Saris, J. J., van Ierland, Y., Verheijen, F. W., van der Sterre, M. L. T., Sadeghi Niaraki, F., Smits, D. J., Huidekoper, H. H., Williams, M. & Wilke, M. & 9 others, , 2 Feb 2023, In: American Journal of Human Genetics. 110, 2, p. 251-272 22 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access39 Citations (Scopus)