1. 2022
  2. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis

    van de Beek, I., Glykofridis, I. E., Oosterwijk, J. C., Akker, P. C., Diercks, G. F. H., Bolling, M. C., Waisfisz, Q., Mensenkamp, A. R., Balk, J. A., Zwart, R., Postma, A. V., Meijers-Heijboer, H. E. J., Moorselaar, R. J. A., Wolthuis, R. M. F. & Houweling, A. C., 28 Nov 2022, (E-pub ahead of print) In: Human molecular genetics.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

    van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 othersHitz, M-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  4. 2021
  5. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

    van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu’Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 othersHitz, M-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  6. 2020
  7. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5

    Dominguez, F., Zorio, E., Jimenez-Jaimez, J., Salguero-Bodes, R., Zwart, R., Gonzalez-Lopez, E., Molina, P., Bermúdez-Jiménez, F., Delgado, J. F., Braza-Boïls, A., Bornstein, B., Toquero, J., Segovia, J., van Tintelen, J. P., Lara-Pezzi, E. & Garcia-Pavia, P., 1 Jun 2020, In: Heart rhythm. 17, 6, p. 945-954 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. 2019
  9. Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo

    van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Lekanne Deprez, R. H., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P. & James, C. A., 2019, In: Circulation. Genomic and precision medicine. 12, 8, p. e002467

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2017
  11. Insulin deficiency results in reversible protein kinase A activation and tau phosphorylation

    van der Harg, J. M., Eggels, L., Bangel, F. N., Ruigrok, S. R., Zwart, R., Hoozemans, J. J. M., la Fleur, S. E. & Scheper, W., 2017, In: Neurobiology of disease. 103, p. 163-173

    Research output: Contribution to journalArticleAcademicpeer-review

  12. 2014
  13. Liposomes bi-functionalized with phosphatidic acid and an ApoE-derived peptide affect Aβ aggregation features and cross the blood-brain-barrier: implications for therapy of Alzheimer disease

    Bana, L., Minniti, S., Salvati, E., Sesana, S., Zambelli, V., Cagnotto, A., Orlando, A., Cazzaniga, E., Zwart, R., Scheper, W., Masserini, M. & Re, F., 2014, In: Nanomedicine: nanotechnology, biology and medicine. 10, 7, p. 1583-1590

    Research output: Contribution to journalArticleAcademicpeer-review

  14. 2013
  15. Inhibition of endoplasmic reticulum associated degradation reduces endoplasmic reticulum stress and alters lysosomal morphology and distribution

    Elfrink, H. L., Zwart, R., Baas, F. & Scheper, W., 2013, In: Molecules and cells. 35, 4, p. 291-297

    Research output: Contribution to journalArticleAcademicpeer-review

  16. Intracellular accumulation of aggregated pyroglutamate amyloid beta: convergence of aging and Aβ pathology at the lysosome

    de Kimpe, L., van Haastert, E. S., Kaminari, A., Zwart, R., Rutjes, H., Hoozemans, J. J. M. & Scheper, W., 2013, In: Age (Dordrecht, Netherlands). 35, 3, p. 673-687

    Research output: Contribution to journalArticleAcademicpeer-review

  17. Ubiquilin 2 is not associated with tau pathology

    Nölle, A., van Haastert, E. S., Zwart, R., Hoozemans, J. J. M. & Scheper, W., 2013, In: PLoS ONE. 8, 9, p. e76598

    Research output: Contribution to journalArticleAcademicpeer-review

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