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Tzung-Chien Hsieh
Tzung-Chien Hsieh
Institute for Genome Statistics and Bioinformatics, University Bonn
Verified email at uni-bonn.de - Homepage
Title
Cited by
Cited by
Year
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
702018
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
532019
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
372018
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
322019
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
322013
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
272022
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
72021
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
42021
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
32022
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
22022
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, ...
22018
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
12022
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
12021
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
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