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Research Portal of the TU Dresden

Department of Paediatrics, Social Pediatric Center

Organisational unit: Centre

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TUD website: https://www.uniklinikum-dresden.de/de/das-klinikum/kliniken-polikliniken-institute/kik/bereiche/fachbereiche/sozialpadiatrisches-zentrum-spz

Parent units

Department of Paediatrics, Division of Neuropediatrics

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome

Kowalzyk, Z., Porrmann, J., Au, P. Y. B., Choufani, S., Weksberg, R., Hackmann, K. & Kübler, A. & 14 others, Kögler, A., Lewis, N. S., Köhler, A., Wagner, J., Bermudez, M., Hübner, C., Schallner, J., Jauss, R., Vogelberg, C., Mayer, B., Di Donato, N., Schröck, E., Le Duc, D. & Jahn, A., 4 Sept 2026, (E-pub ahead of print) In: Journal of Human Genetics. 3 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

A further example of the role of small non-coding RNAs (sncRNAs) in syndromic diseases that also highlights the diagnostic gap of Whole Exome Sequencing (WES)

Hütter, S., Arlt, M., Hackmann, K., William, D., Kutz, O., Hutschenreiter, T. & Steinz, F. & 5 others, Kretschmer, T., Dahl, A., Schallner, J. C., Schröck, E. & Porrmann, J., 2024, A further example of the role of small non-coding RNAs (sncRNAs) in syndromic diseases that also highlights the diagnostic gap of Whole Exome Sequencing (WES).

Research output: Contribution to book/Conference proceedings/Anthology/Report › Other chapter contribution › Contributed › peer-review

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C. & Damseh, N. & 26 others, Al-Ashhab, M., Balci, T. B., Osmond, M., Andrade, A., Schallner, J., Porrmann, J., McDonald, K., Liao, M., Oppermann, H., Platzer, K., Dierksen, N., Mojarrad, M., Eslahi, A., Bakaeean, B., Calame, D. G., Lupski, J. R., Firoozfar, Z., Seyedhassani, S. M., Mohammadi, S. A., Anwaar, N., Rahman, F., Seelow, D., Janz, M., Horn, D., Maroofian, R. & Boschann, F., Aug 2023, In: European journal of human genetics : EJHG. 31, 8, p. 905-917 13 p.

Research output: Contribution to journal › Research article › Contributed

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