Tzung-Chien Hsieh
Affiliations
  • IGSB
Research topics
  • Next-generation phenotyping for rare disorders
  • Deep Learning and Image Analysis
  • Bioinformatics
I am the principal investigator dedicated to advancing next-generation phenotyping approaches for the analysis of rare disorders. My recent publication, GestaltMatcher in Nature Genetics, marks a significant milestone in this endeavor. Presently, my team and I are actively developing the GestaltMatcher Database, with the overarching goal of providing support for individuals with rare disorders across diverse populations.
Selected publications
  1. Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, …, et al., Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings. Nature Genetics (IF:31.7), July 2024
  2. Hellen Lesmann, Alexander Hustinx, Shahida Moosa, …, Tzung-Chien Hsieh*, GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Nature Genetics (IF: 31.7), (under review)
  3. Alexander Hustinx, Fabio Hellmann, Ömer Sümer, Behnam Javanmardi, Elisabeth André, Peter Krawitz, Tzung-Chien Hsieh*, Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles. Winter Conference of Application Computer Vision, January 2023
  4. Tzung-Chien Hsieh*, et al., GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors. Nature Genetics (IF: 31.7), February 2022
  5. Tzung-Chien Hsieh*, et al., PEDIA: Prioritization of Exome Data by Image Analysis. Genetics in Medicine (IF:6.6), June 2019
Tzung-Chien Hsieh
Dr. rer. nat. Tzung-Chien Hsieh

605

Venusberg-Campus 1 Building 11, 2nd Floor

53127 Bonn

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