| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ... Genome medicine 10, 1-13, 2018 | 70 | 2018 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 53 | 2019 |
| Advances in computer‐assisted syndrome recognition by the example of inborn errors of metabolism JT Pantel, M Zhao, MA Mensah, N Hajjir, TC Hsieh, Y Hanani, N Fleischer, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018 | 37 | 2018 |
| The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping F Marbach, CF Rustad, A Riess, D Đukić, TC Hsieh, I Jobani, T Prescott, ... The American Journal of Human Genetics 104 (4), 749-757, 2019 | 32 | 2019 |
| Comparison of feature selection methods for cross-laboratory microarray analysis HC Liu, PC Peng, TC Hsieh, TC Yeh, CJ Lin, CY Chen, JY Hou, LY Shih, ... IEEE/ACM transactions on computational biology and bioinformatics 10 (3 …, 2013 | 32 | 2013 |
| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 27 | 2022 |
| GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... medRxiv, 2020.12. 28.20248193, 2021 | 7 | 2021 |
| KBG syndrome: Prospective videoconferencing and use of AI-driven facial phenotyping in 25 new patients L Guo, J Park, E Yi, E Marchi, TC Hsieh, Y Kibalnyk, Y Moreno-Sáez, ... medRxiv, 2021.11. 18.21266480, 2021 | 4 | 2021 |
| De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway M Asif, E Kaygusuz, M Shinawi, A Nickelsen, TC Hsieh, P Wagle, ... Human Genetics and Genomics Advances 3 (3), 2022 | 3 | 2022 |
| KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients L Guo, J Park, E Yi, E Marchi, TC Hsieh, Y Kibalnyk, Y Moreno-Sáez, ... European Journal of Human Genetics, 1-11, 2022 | 2 | 2022 |
| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features flow cytometry, and automated image analysis. Genone Med. 10 (1).(2018) A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ... | 2 | 2018 |
| eP182: KBG syndrome: Prospective videoconferencing and use of AI-driven facial phenotyping G Lyon, L Guo, J Park, E Yi, E Marchi, Y Kibalnyk, A Voronova, TC Hsieh, ... Genetics in Medicine 24 (3), S112-S113, 2022 | 1 | 2022 |
| De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies F Ebstein, S Küry, V Most, C Rosenfelt, MPS Boyer, GM van Woerden, ... medRxiv, 2021.12. 07.21266342, 2021 | 1 | 2021 |
| Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles A Hustinx, F Hellmann, Ö Sümer, B Javanmardi, E André, P Krawitz, ... Proceedings of the IEEE/CVF Winter Conference on Applications of Computer …, 2023 | | 2023 |
| Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome F Brand, A Vijayananth, TC Hsieh, A Schmidt, S Peters, E Mangold, ... Human Mutation 43 (11), 1659-1665, 2022 | | 2022 |
| Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders Ö Sümer, F Hellmann, A Hustinx, TC Hsieh, E André, P Krawitz arXiv preprint arXiv:2210.12705, 2022 | | 2022 |
| Next-generation phenotyping for rare Mendelian disorders TC Hsieh Universitäts-und Landesbibliothek Bonn, 2022 | | 2022 |
| Removing confounders from facial representations trained on the biased patient images TC Hsieh, AHIPR Hustinx, A Bar-Haim, TJ Pantel, N Fleischer, A Knaus, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 28-29, 2022 | | 2022 |
| BICRA-based neurodevelopmental disorder: Two additional case reports and computational analysis of facial gestalt A Schmidt, TC Hsieh, A Knaus, S Peters, E Mangold, M Kreiss, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 232-233, 2022 | | 2022 |
| De novo variants in the lysinedemethylase PHF2 are associated with developmental delay, autistic behavior, and facial dysmorphism A Knaus, M Wojcik, M Viktor, K Grand, PA Sanchez-Lara, TC Hsieh, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 294-294, 2022 | | 2022 |
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsVerified email at uni-bonn.de
