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van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; ... (2024). DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. HGG advances, 5(3), p. 100289. Elsevier 10.1016/j.xhgg.2024.100289
Postma, Alex V; Rapp, Christina K; Knoflach, Katrin; Volk, Alexander E; Lemke, Johannes R; Ackermann, Maximilian; Regamey, Nicolas; Latzin, Philipp; Celant, Lucas; Jansen, Samara M A; Bogaard, Harm J; Ilgun, Aho; Alders, Mariëlle; van Spaendonck-Zwarts, Karin Y; Jonigk, Danny; Klein, Christoph; Gräf, Stefan; Kubisch, Christian; Houweling, Arjan C and Griese, Matthias (2023). Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension. Genetics in medicine open, 1(1), p. 100811. Elsevier 10.1016/j.gimo.2023.100811
