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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
German Competence Network for Congenital Heart Defects, 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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Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
Mazzarotto, F., Hawley, M. H., Beltrami, M., Beekman, L., de Marvao, A., McGurk, K. A., Statton, B., Boschi, B., Girolami, F., Roberts, A. M., Lodder, E. M., Allouba, M., Romeih, S., Aguib, Y., Baksi, A. J., Pantazis, A., Prasad, S. K., Cerbai, E., Yacoub, M. H. & O’Regan, D. P. & 7 others, , May 2021, In: Genetics in medicine. 23, 5, p. 856-864 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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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, , 1 Mar 2021, In: Journal of clinical investigation. 131, 5, e142148.Research output: Contribution to journal › Article* › Academic › peer-review
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