Amsterdam Cardiovascular Sciences

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Nicastro, M., Vermeer, A. M. C., Postema, P. G., Tadros, R., Bowling, F. Z., Aegisdottir, H. M., Tragante, V., Mach, L., Postma, A. V., Lodder, E. M., van Duijvenboden, K., Zwart, R., Beekman, L., Wu, L., van der Zwaag, P. A., Alders, M., Allouba, M., Aguib, Y., Santomel, J. L., de Una, D., & 50 othersMonserrat, L., Miranda, A. M. A., Kanemaru, K., Cranley, J., van Zeggeren, I. E., Aronica, E. M. A., Ripolone, M., Zanotti, S., Sveinbjornsson, G., Ivarsdottir, E. V., Hólm, H., Guðbjartsson, D. F., Skúladóttir, Á. T., Stefánsson, K., Nadauld, L., Knowlton, K. U., Ostrowski, S. R., Sørensen, E., Vesterager Pedersen, O. B., Ghouse, J., Rand, S., Bundgaard, H., Ullum, H., Erikstrup, C., Aagaard, B., Bruun, M. T., Christiansen, M., Jensen, H. K., Carere, D. A., Cummings, C. T., Fishler, K., Tøring, P. M., Brusgaard, K., Juul, T. M., Saaby, L., Winkel, B. G., Mogensen, J., Fortunato, F., Comi, G. P., Ronchi, D., van Tintelen, J. P., Noseda, M., Airola, M. V., Christiaans, I., Wilde, A. A. M., Wilders, R., Clur, S-A., Verkerk, A. O., Bezzina, C. R. & Lahrouchi, N., 5 Jul 2024, In: medRxiv.

Research output: Contribution to journal › Article › Academic

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., 1 Apr 2023, In: Human Molecular Genetics. 32, 7, p. 1223-1235 13 p.

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