Recent publications
2025
Penetrance of Parkinson's disease in GBA1 carriers is depending on the variant severity and polygenic background
Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, Peter Krawitz, Carlo Maj, et al.
medRxiv, 2025.01. 23.25320896, 2025
Download/Link ↗Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicine
Rana S Aldisi, Alsamman M Alsamman, Peter Krawitz, Carlo Maj, Hatem Zayed
Clinical Proteomics 22 (1), 1-11, 2025
Download/Link ↗Schneller zur genetischen Diagnose bei Kindern mit auffälliger Fazies durch künstliche Intelligenz
Peter M Krawitz, Adele Ruder, Tim Niehues
Monatsschrift Kinderheilkunde, 1-5, 2025
Download/Link ↗Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome
Tzung-Chien Hsieh, Dylan Todd, Taylor Warner, Kayla Blankenship, Dimah Saade, et al.
medRxiv, 2025.02. 12.25321927, 2025
Download/Link ↗Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion
Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung‐Chien Hsieh, et al.
American Journal of Medical Genetics Part A 197 (2), e63856, 2025
Download/Link ↗Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, et al.
The American Journal of Human Genetics, 2025
Download/Link ↗GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
Aron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, Tzung-Chien Hsieh, Fabian Brand, et al.
European Journal of Human Genetics, 1-6, 2025
Download/Link ↗Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, et al.
Annals of neurology 97 (1), 76-89, 2025
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