Amsterdam Cardiovascular Sciences

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Postma, A. V., Rapp, C. K., Knoflach, K., Volk, A. E., Lemke, J. R., Ackermann, M., Regamey, N., Latzin, P., Celant, L., Jansen, S. M. A., Bogaard, H. J., Ilgun, A., Alders, M., van Spaendonck-Zwarts, K. Y., Jonigk, D., Klein, C., Gräf, S., Kubisch, C., Houweling, A. C. & Griese, M., 1 Jan 2023, In: Genetics in medicine open. 1, 1, p. 100811 100811.

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 others, Hitz, 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

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Lahrouchi, N., Postma, A. V., Salazar, C. M., de Laughter, D. M., Tjong, F., Piherová, L., Bowling, F. Z., Zimmerman, D., Lodder, E. M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić-Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P. & de Leeuw, R. & 36 others, Robinson, J. Y., Burn, S. C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D. M., Wolf, B., Kim, K. H., Cherny, S., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denommé-Pichon, A.-S., Francannet, C., Ortiz, D., Haak, M. C., ten Harkel, A. D. J., Manten, G. T. R., Dutman, A. C., Bouman, K., Magliozzi, M., Radio, F. C., Santen, G. W. E., Herkert, J. C., Alex Brown, H., Elpeleg, O., van den Hoff, M. J. B., Mulder, B., Airola, M. V., Kmoch, S., Barnett, J. V., Clur, S.-A., Frohman, M. A. & Bezzina, C. R., 1 Mar 2021, In: Journal of Clinical Investigation. 131, 5, e142148.

Research output: Contribution to journal › Article › Academic › peer-review