Amsterdam Cardiovascular Sciences

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 others, Hitz, 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

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

van Dijk, F. S., Semler, O., Etich, J., Köhler, A., Jimenez-Estrada, J. A., Bravenboer, N., Claeys, L., Riesebos, E., Gegic, S., Piersma, S. R., Jimenez, C. R., Waisfisz, Q., Flores, C.-L., Nevado, J., Harsevoort, A. J., Janus, G. J. M., Franken, A. A. M., van der Sar, A. M., Meijers-Heijboer, H. & Heath, K. E. & 18 others, Lapunzina, P., Nikkels, P. G. J., Santen, G. W. E., Nüchel, J., Plomann, M., Wagener, R., Rehberg, M., Hoyer-Kuhn, H., Eekhoff, E. M. W., Pals, G., Mörgelin, M., Newstead, S., Wilson, B. T., Ruiz-Perez, V. L., Maugeri, A., Netzer, C., Zaucke, F. & Micha, D., 5 Nov 2020, In: American journal of human genetics. 107, 5, p. 989-999 11 p.

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

Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center

Eekhoff, E. M. W., Micha, D., Forouzanfar, T., de Vries, T. J., Netelenbos, J. C., Klein-Nulend, J., van Loon, J. J. W. A., Lubbers, W. D., Schwarte, L., Schober, P., Raijmakers, P. G. H. M., Teunissen, B. P., de Graaf, P., Lammertsma, A. A., Yaqub, M. M., Botman, E., Treurniet, S., Smilde, B. J., Bökenkamp, A. & Boonstra, A. & 36 others, Kamp, O., Nieuwenhuijzen, J. A., Visser, M. C., Baayen, H. J. C., Dahele, M., Eeckhout, G. A. M., Goderie, T. P. M., Smits, C., Gilijamse, M., Karagozoglu, K. H., van de Valk, P., Dickhoff, C., Moll, A. C., Verbraak, F. F. D., Curro-Tafili, K. K. R., Ghyczy, E. A. E., Rustemeyer, T., Saeed, P., Maugeri, A., Pals, G., Ridwan-Pramana, A., Pekel, E., Schoenmaker, T., Lems, W., Winters, H. A. H., Botman, M., Giannakópoulos, G. F., Koolwijk, P., Janssen, J. J. W. M., Kloen, P., Bravenboer, N., Smit, J. M., Helder, M. N., Raijmakers, P., Teunissen, B. P. & Janssen, J. M. W. M., 11 Aug 2020, In: Frontiers in endocrinology. 11, 481.

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