Research output per year
Research output per year
Personal profile
External positions
Leiden University Medical Centre
1 Jan 1987 → 1 Sept 1997
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Dive into the research topics where Jasper Saris is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Scala, M., Drouot, N., MacLennan, S. C., Wessels, M. W., Krygier, M., Pavinato, L., Telegrafi, A., de Man, S. A., van Slegtenhorst, M., Iacomino, M., Madia, F., Scudieri, P., Uva, P., Giacomini, T., Nobile, G., Mancardi, M. M., Balagura, G., Galloni, G. B., Verrotti, A., Umair, M., & 11 others, Sept 2022, In: Human Mutation. 43, 9, p. 1299-1313 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)24 Downloads (Pure) -
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Douben, H. C. W., Nellist, M., van Unen, L., Elfferich, P., Kasteleijn, E., Hoogeveen-Westerveld, M., Louwen, J., van Veghel-Plandsoen, M., de Valk, W., Saris, J. J., Hendriks, F., Korpershoek, E., Hoefsloot, L. H., van Vliet, M., van Bever, Y., van de Laar, I., Aten, E., Lachmeijer, A. M. A., Taal, W., van den Bersselaar, L., & 5 others, Dec 2022, In: Human Mutation. 43, 12, p. 2130-2140 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)13 Downloads (Pure) -
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III
Dekker, S., Thijssen, C. G. E., Linde, D. V., vd Laar, I. M. B. H., Saris, J. J., van Es, A. C. G. M., Doormaal, P. J. V., van Bronswijk, P., van Kooten, F. & Roos-Hesselink, J. W., Feb 2022, In: European Journal of Medical Genetics. 65, 2, 104424.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile21 Downloads (Pure) -
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American Journal of Medical Genetics, Part A. 185, 12, p. 3814-3820 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Downloads (Pure)