Publications

* indicates that Tzung-Chien Hsieh is the first/corresponding author

1. Patrick R. Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh*, …, et al., Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology (IF: 8.1), September 2024

2. Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel. Seven novel variants of Weiss-Kruszka syndrome and phenotype expansion. American Journal of Medical Genetics. Part A (IF:1.7), September 2024

3. 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

4. Annabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, …, et al., Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome. American Journal of Medical Genetics. Part A (IF:1.7), May 2024

5. Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, Peter M Krawitz, Tzung-Chien Hsieh*, Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis. Genes (IF:2.8), March 2024

6. Dat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, …, Tzung-Chien Hsieh, Rebekah L Waikel, Elisabeth André, Peter Krawitz, Benjamin D Solomon, Comparison of clinical geneticist and computer visual attention in assessing genetic conditions. PLoS genetics (IF:5.1), February 2024

7. Lucia Laugwitz, Fubo Cheng, Stephan C Collins, …, Tzung-Chien Hsieh, et al., ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain (IF: 10.6), February 2024

8. Pomme MF Rigter, Charlotte de Konink, Matthew J Dunn, …, Tzung-Chien Hsieh, et al., Role of CAMK2D in neurodevelopment and associated conditions. The American Journal of Human Genetics (IF: 8.1), February 2024

9. Dong Li, …, Tzung-Chien Hsieh, et al., Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The journal of Clinical Investigation (IF: 13.3), November 2023

10. Emadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, et al., Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank. Frontiers in Genetics (IF: 3.33), November 2023

11. Sebastian Rassmann, …, Tzung-Chien Hsieh, et al. Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias. Pediatric Radiology (IF: 2.1), November 2023

12. Tzung-Chien Hsieh*, Hellen Lesmann & Peter Krawitz, Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores. Current Protocol (IF: 3.33), October 2023

13. Tzung-Chien Hsieh* & Peter Krawitz. Computational facial analysis for rare Mendelian disorders. American Journal Medical Genetics C Seminar in Medical Genetics (IF:2.8), September 2023

14. Caitlin Forwood, … , Tzung-Chien Hsieh, et al. Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant. American Journal Medical Genetics C Seminar in Medical Genetics (IF:2.8), August 2023

15. Henry Oppermann, … , Tzung-Chien Hsieh, et al. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics (IF: 3.7), August 2023

16. Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, … , Tzung-Chien Hsieh, et al., PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science Translational Medicine (IF:15.8), May 2023

17. Gholson J Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, et al., Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome. European Journal of Human Genetics, (IF:3.7), May 2023

18. Ömer Sümer, Fabio Hellmann, Alexander Hustinx, Tzung-Chien Hsieh, Elisabeth André, Peter Krawitz, Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders. Caring is Sharing – Exploiting the Value in Data for Health and Innovation 932–936, June 2023

19. Fabio Hellmann, Silvan Mertes, Mohamed Benouis, Alexander Hustinx, Tzung-Chien Hsieh, Cristina Conati, Peter Krawitz, Elisabeth André, GANonymization: A GAN-based Face Anonymization Framework for Preserving Emotional Expressions. ACM Transactions on Multimedia Computing, Communications and Applications (IF: 3.14), January 2024

20. Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, et al., Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genetics in Medicine (IF:6.6), March 2023

21. Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, …, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch, The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant, European journal of human genetics (IF: 3.7), February 2023

22. Antje Kampmeier, …, Tzung-Chien Hsieh, et al., PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals, European journal of human genetics Frontiers in Cell and Developmental Biology (IF: 4.6), January 2023

23. 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

24. Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al. Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome. Human Mutation (IF:3.3), September 2022

25. Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Yana Kibalnyk, Anastassia Voronova, Tzung-Chien Hsieh, et al., KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients. European journal of human genetics (IF:3.7), August 2022

26. Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, et al., De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Human Genetics and Genomics (HGG) Advances (IF:3.3), July 2022

27. Tzung-Chien Hsieh*, et al., GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors. Nature Genetics (IF: 31.7), February 2022

28. Tzung-Chien Hsieh*, et al., PEDIA: Prioritization of Exome Data by Image Analysis. Genetics in Medicine (IF:6.6), June 2019

29. Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh, et al., The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping. American Journal of Human Genetics (IF:8.1), April 2019

30. Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nur Hajjir, Max Zhao, Tzung-Chien Hsieh, et al., Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine (IF:10.4), December 2018

31. Tori Pantel, Max Zhao, Martin Mensah, Nur Hajjir, Tzung-Chien Hsieh, et al., Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders. Journal of Inherited Metabolic Disease (IF:4.2), April 2018

32. Hsi-Che Liu, Pei-Chen Peng, Tzung-Chien Hsieh, et al., Comparison of feature selection methods for cross-laboratory microarray analysis. IEEE/ACM Transactions on Computational Biology and Bioinformatics (IF:3.6), 24 July 2013

Under review

1. 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)

2. Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, et al., GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. Nature Genetics (IF: 31.7), (under review)

3. Aron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, Tzung-Chien Hsieh, …, et al., GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders. European Journal of Human Genetics (IF:3.7), (under review)

4. Sébastien Küry, Janelle E. Stanton, Geeske van Woerden, Tzung-Chien Hsieh, …, et al., Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies, Nature Communications (IF: 14.7), (under review)