| 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 | 117 | 2022 |
| 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 | 95 | 2019 |
| 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 | 88 | 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 | 48 | 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 | 45 | 2018 |
| 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 | 33 | 2013 |
| Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome GJ Lyon, M Vedaie, T Beisheim, A Park, E Marchi, L Gottlieb, TC Hsieh, ... European Journal of Human Genetics 31 (7), 824-833, 2023 | 25 | 2023 |
| 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 30 (11), 1244-1254, 2022 | 21 | 2022 |
| PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production F Ebstein, S Küry, V Most, C Rosenfelt, MP Scott-Boyer, GM van Woerden, ... Science translational medicine 15 (698), eabo3189, 2023 | 18 | 2023 |
| 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 | 14 | 2022 |
| 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 | 13 | 2023 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders. H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv: The Preprint Server for Health Sciences, 2023 | 10 | 2023 |
| The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant M Aerden, AS Denommé-Pichon, D Bonneau, AL Bruel, J Delanne, ... European Journal of Human Genetics 31 (4), 461-468, 2023 | 10 | 2023 |
| CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology H Oppermann, E Marcos-Grañeda, LA Weiss, CA Gurnett, AM Jelsig, ... European Journal of Human Genetics 31 (11), 1251-1260, 2023 | 9 | 2023 |
| Spliceosome malfunction causes neurodevelopmental disorders with overlapping features D Li, Q Wang, A Bayat, MR Battig, Y Zhou, DGM Bosch, G van Haaften, ... The Journal of Clinical Investigation 134 (1), 2024 | 8 | 2024 |
| PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals A Kampmeier, E Leitão, I Parenti, J Beygo, C Depienne, NC Bramswig, ... Frontiers in cell and developmental biology 10, 1020609, 2023 | 8 | 2023 |
| Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ... Nature Genetics, 1-10, 2024 | 7 | 2024 |
| Facilitating the molecular diagnosis of rare genetic disorders through facial phenotypic scores TC Hsieh, H Lesmann, PM Krawitz Current Protocols 3 (10), e906, 2023 | 7 | 2023 |
| Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence L Averdunk, MA Huetzen, D Moreno-Andrés, R Kalb, S McKee, TC Hsieh, ... Genetics in Medicine 25 (7), 100836, 2023 | 7 | 2023 |
| 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 |
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and Bioinformatics在 uni-bonn.de 的电子邮件经过验证
