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  1. 2023

  2. Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries

    Woudstra, O. I., Skoric-Milosavljevic, D., Mulder, B. J. M., Meijboom, F. J., Post, M. C., Jongbloed, M. R. M., van Dijk, A. P. J., van Melle, J. P., Konings, T. C., Postma, A. V., Bezzina, C. R., Bouma, B. J. & Tanck, M. W. T., 15 Jan 2023, In: International journal of cardiology. 371, p. 153-159 7 p.

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

  3. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

    van de Beek, I., Glykofridis, I. E., Tanck, M. W. T., Luijten, M. N. H., Starink, T. M., Balk, J. A., Johannesma, P. C., Hennekam, E., van den Hoff, M. J. B., Gunst, Q. D., Gille, J. J. P., Polstra, A. M., Postmus, P. E., van Steensel, M. A. M., Postma, A. V., Wolthuis, R. M. F., Menko, F. H., Houweling, A. C. & Waisfisz, Q., 2023, (Accepted/In press) In: Journal of human genetics.

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

  4. 2022

  5. 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

  6. No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice

    Hibender, S., Li, S., Postma, A. V., Hoogeland, M. E., Klaver, D., Pouw, R. B., Niessen, H. W., Driessen, A. H., Koolbergen, D. R., de Vries, C. J., Baars, M. J., Houweling, A. C., Krijnen, P. A. & de Waard, V., 1 Oct 2022, (E-pub ahead of print) In: Vascular biology (Bristol, England). 4, 1, p. 40-9 10 p.

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

  7. 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

  8. Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

    van Ouwerkerk, A. F., Bosada, F. M., van Duijvenboden, K., Houweling, A. C., Scholman, K. T., Wakker, V., Allaart, C. P., Uhm, J-S., Mathijssen, I. B., Baartscheer, T., Postma, A. V., Barnett, P., Verkerk, A. O., Boukens, B. J. & Christoffels, V. M., 22 Feb 2022, In: Circulation. 145, 8, p. 606-619 14 p.

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

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

    KORA-Study Group, Škorić-Milosavljević, D., Tadros, R., Bosada, F. M., Tessadori, F., van Weerd, J. H., Woudstra, O. I., 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., & 61 othersvan Duijvenboden, K., Bokenkamp, R., Müller-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. T., 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., Radivojkov-Blagojević, M., Meitinger, T., Oechslin, E., Mondal, T., Bergin, L., Smythe, J. F., Altamirano-Diaz, L., Lougheed, J., Bouma, B. J., Chaix, M-A., Kline, J., Bassett, A. S., Andelfinger, G., van der Palen, R. L. F., Bouvagnet, P., Clur, S-A. B., Breckpot, J., Kerstjens-Frederikse, W. S., Winlaw, D. S., Bauer, U. M. M., Mital, S., Goldmuntz, E., Keavney, B., Bonnet, D., Mulder, B. J., Tanck, M. W. T., Bakkers, J., Christoffels, V. M., Boogerd, C. J., Postma, A. V. & Bezzina, C. R., 21 Jan 2022, In: Circulation research. 130, 2, p. 166-180 15 p.

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

  10. 2021

  11. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

    Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3814-3820 7 p.

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

  12. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

    Škorić-Milosavljević, D., Lahrouchi, N., Bosada, F. M., Dombrowsky, G., Williams, S. G., Lesurf, R., Tjong, F. V. Y., Walsh, R., el Bouchikhi, I., Breckpot, J., Audain, E., Ilgun, A., Beekman, L., Ratbi, I., Strong, A., Muenke, M., Heide, S., Muir, A. M., Hababa, M., Cross, L., & 31 othersZhou, D., Pastinen, T., Hitz, M-P., Abdul-Khaliq, H., Berger, F., Dähnert, I., Dittrich, S., Uebing, A., German Competence Network for Congenital Heart Defects, Stiller, B., Zackai, E., Atmani, S., Ouldim, K., Adadi, N., Steindl, K., Rauch, A., Brook, D., Wilsdon, A., Kuipers, I., Blom, N. A., Mulder, B. J., Mefford, H. C., Keren, B., Joset, P., Kruszka, P., Thiffault, I., Lodder, E. M., Clur, S-A. B., Christoffels, V. M., Postma, A. V. & Bezzina, C. R., Oct 2021, In: Genetics in medicine. 23, 10, p. 2013 1 p.

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  13. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

    Škorić-Milosavljević, D., Lahrouchi, N., Bosada, F. M., Dombrowsky, G., Williams, S. G., Lesurf, R., Tjong, F. V. Y., Walsh, R., el Bouchikhi, I., Breckpot, J., Audain, E., Ilgun, A., Beekman, L., Ratbi, I., Strong, A., Muenke, M., Heide, S., Muir, A. M., Hababa, M., Cross, L., & 31 othersZhou, D., Pastinen, T., Hitz, M-P., Abdul-Khaliq, H., Berger, F., Dähnert, I., Dittrich, S., Uebing, A., German Competence Network for Congenital Heart Defects, Stiller, B., Zackai, E., Atmani, S., Ouldim, K., Adadi, N., Steindl, K., Rauch, A., Brook, D., Wilsdon, A., Kuipers, I., Blom, N. A., Mulder, B. J., Mefford, H. C., Keren, B., Joset, P., Kruszka, P., Thiffault, I., Lodder, E. M., Clur, S-A. B., Christoffels, V. M., Postma, A. V. & Bezzina, C. R., Oct 2021, In: Genetics in medicine. 23, 10, p. 1952-1960 9 p.

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

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ID: 79221