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Item TypeArticle
A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy.
Kühnisch, Jirko
ORCID: https://orcid.org/0000-0003-4744-5421, Barnett, Cara L.
ORCID: https://orcid.org/0000-0003-2980-4005, Brendel, Josephine
ORCID: https://orcid.org/0000-0002-7947-2881, Berklite, Lara
ORCID: https://orcid.org/0009-0000-7341-1642, Villa, Chet
ORCID: https://orcid.org/0000-0002-8195-0694, Seifert, Wenke
ORCID: https://orcid.org/0000-0003-1432-9862, Klaassen, Sabine
ORCID: https://orcid.org/0000-0001-5925-9912, Klingel, Karin
ORCID: https://orcid.org/0000-0003-0203-2498 and Weaver, K. Nicole
ORCID: https://orcid.org/0000-0002-3991-135X
Human Genetics and Genomics Advances 7
(3): 100598.
9 July 2026
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.
ORCID: https://orcid.org/0000-0002-3051-1763, Juranek, S.A., Siewert, A., Scheer, A.B., Thieme, F., Mangold, E., Ishorst, N., Brand, F.U., Welzenbach, J., Beule, D.
ORCID: https://orcid.org/0000-0002-3284-0632, Paeschke, K., Krawitz, P.M.
ORCID: https://orcid.org/0000-0002-3194-8625 and Ludwig, K.U.
ORCID: https://orcid.org/0000-0002-8541-2519
Human Genetics and Genomics Advances 4
(1): 100166.
12 January 2023
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.
ORCID: https://orcid.org/0000-0003-4372-1521, 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
This list was generated on Wed Jul 15 03:14:56 2026 UTC.