Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Genomics England Research Consortium, Pagnamenta, A. T., Jackson, A., Perveen, R., Beaman, G., Petts, G., Gupta, A., Hyder, Z., Chung, B. H. Y., Kan, A. S. Y., Cheung, K. W., Kerstjens-Frederikse, W. S., Abbott, K. M., Elpeleg, O., Taylor, J. C., Banka, S. & Ta-Shma, A., Jan-2022, In: Clinical Genetics. 101, 1, p. 127-133 7 p.

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

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Skoric-Milosavljevic, D., Tadros, R., Bosada, F. M., Tessadori, F., van Weerd, J. H., Woudstra, O., Tjong, F. V. Y., Lahrouchi, N., Bajolle, F., Cordell, H. J., Agopian, A. J., Blue, G. M., Barge-Schaapveld, D. Q. C. M., Gewillig, M., Preuss, C., Lodder, E. M., Barnett, P., Ilgun, A., Beekman, L., van Duijvenboden, K. & 30 others, Bokenkamp, R., Muller-Nurasyid, M., Vliegen, H. W., Konings, T. C., van Melle, J. P., van Dijk, A. P. J., van Kimmenade, R. R. J., Roos-Hesselink, J. W., Sieswerda, G., Meijboom, F., Abdul-Khaliq, H., Berger, F., Dittrich, S., Hitz, M-P., Moosmann, J., Riede, F-T., Schubert, S., Galan, P., Lathrop, M., Munter, H. M., Al-Chalabi, A., Shaw, C. E., Shaw, P. J., Morrison, K. E., Veldink, J. H., van den Berg, L. H., Evans, S., Nobrega, M. A., Aneas, I. & Kerstjens-Frederikse, W. S., 21-Jan-2022, In: Circulation research. 130, 2, p. 166-180 15 p.

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

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Engwerda, A., Leenders, E. K. S. M., Frentz, B., Terhal, P. A., Lohner, K., De Vries, B. B. A., Dijkhuizen, T., Vos, Y. J., Rinne, T., Van den Berg, M. P., Roofthooft, M. T. R., Deelen, P., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., Apr-2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 366-366 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

Willemse, B. W. M., van der Crabben, S. N., Kerstjens-Frederikse, W. S., Timens, W., van Montfrans, J. M., Lindemans, C. A., Boelens, J. J., Hennus, M. P. & van Haaften, G., 19-Mar-2021, In: Orphanet journal of rare diseases. 16, 1, 7 p., 137.

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

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

Imafidon, M. E., Sikkema-Raddatz, B., Abbott, K. M., Meems-Veldhuis, M. T., Swertz, M. A., van der Velde, K. J., Beunders, G., Bos, D. K., Knoers, N. V. A. M., Kerstjens-Frederikse, W. S. & van Diemen, C. C., 31-May-2021, In: Frontiers in Pediatrics. 9, 15 p., 600556.

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