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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 journal › Article › Academic › peer-review

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 journal › Comment/Letter to the editor › Academic

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review

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 journal › Article › Academic › peer-review