20092019

Research output per year

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Fingerprint Dive into the research topics where Federico Tessadori is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. Å. M., Hjellnes, H., Arntzen, K. A., Müller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., Huang, Y., Singareddy, S. S., Gunn, J., Wozniak, D. F., Kovacs, A., Massink, M., Tessadori, F., Kamel, S. M. & 5 others, Bakkers, J., Remedi, M. S., Van Ghelue, M., Nichols, C. G. & van Haaften, G., 01 Oct 2019, In : Nature Communications. 10, 1, p. 4457

Research output: Contribution to journal/periodicalArticleScientificpeer-review

Open Access
  • A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

    Tessadori, F., Rehman, A. U., Giltay, J. C., Xia, F., Streff, H., Duran, K., Bakkers, J., Lalani, S. R. & van Haaften, G., 05 Dec 2019, In : European Journal of Human Genetics.

    Research output: Contribution to journal/periodicalArticleScientificpeer-review

    Open Access
  • Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

    van den Boogaard, M., van Weerd, J. H., Bawazeer, A. C., Hooijkaas, I. B., van de Werken, H. J. G., Tessadori, F., de Laat, W., Barnett, P., Bakkers, J. & Christoffels, V. M., 03 Sep 2019, In : Cell Reports. 28, 10, p. 2704-2714.e5

    Research output: Contribution to journal/periodicalArticleScientificpeer-review

    Open Access
  • Identification of human D lactate dehydrogenase deficiency

    Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 others, Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 01 Apr 2019, In : Nature Communications. 10, 1, p. 1477

    Research output: Contribution to journal/periodicalArticleScientificpeer-review

    Open Access
  • Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

    Ciapaite, J., Albersen, M., Savelberg, S. M. C., Bosma, M., Tessadori, F., Gerrits, J., Lansu, N., Zwakenberg, S., Bakkers, J. P. W., Zwartkruis, F. J. T., van Haaften, G., Jans, J. J. & Verhoeven-Duif, N. M., 21 Nov 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. p. 165607

    Research output: Contribution to journal/periodicalArticleScientificpeer-review

    Open Access