2026

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy.
Kühnisch, Jirko, Barnett, Cara L., Brendel, Josephine, Berklite, Lara, Villa, Chet, Seifert, Wenke, Klaassen, Sabine, Klingel, Karin and Weaver, K. Nicole
Human Genetics and Genomics Advances 7 (3): 100598. 9 July 2026

2023

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
Zieger, H.K., Weinhold, L., Schmidt, A., Holtgrewe, M., Juranek, S.A., Siewert, A., Scheer, A.B., Thieme, F., Mangold, E., Ishorst, N., Brand, F.U., Welzenbach, J., Beule, D., Paeschke, K., Krawitz, P.M. and Ludwig, K.U.
Human Genetics and Genomics Advances 4 (1): 100166. 12 January 2023

2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P. and Hussain, M.S.
Human Genetics and Genomics Advances 3 (3): 100111. 14 July 2022