| 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 | 112 | 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 | 91 | 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 |
| 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 | 44 | 2018 |
| Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study JT Pantel, N Hajjir, M Danyel, J Elsner, AT Abad-Perez, P Hansen, ... Journal of medical Internet research 22 (10), e19263, 2020 | 42 | 2020 |
| Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ... Scientific reports 8 (1), 14611, 2018 | 31 | 2018 |
| Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings M Danyel, Z Cheng, C Jung, F Boschann, JT Pantel, N Hajjir, R Flöttmann, ... European Journal of Human Genetics 27 (12), 1827-1835, 2019 | 11 | 2019 |
| 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 | 9 | 2023 |
| Factors in color fundus photographs that can be used by humans to determine sex of individuals S Dieck, M Ibarra, I Moghul, MW Yeung, JT Pantel, S Thiele, M Pfau, ... Translational vision science & technology 9 (7), 8-8, 2020 | 9 | 2020 |
| Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders JT Pantel, M Zhao, MA Mensah, N Hajjir, TC Hsieh, Y Hanani, N Fleischer, ... bioRxiv, 219394, 2017 | 8 | 2017 |
| 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 |
| 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 |
| A machine learning-based screening tool for genetic syndromes in children MA Mensah, CE Ott, D Horn, JT Pantel The Lancet Digital Health 4 (5), e295, 2022 | 5 | 2022 |
| Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features U Kornak, N Saha, B Keren, A Neumann, ALT Tavares, J Piard, J Kopp, ... Genetics in Medicine 24 (9), 1927-1940, 2022 | 3 | 2022 |
| Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity LA La Rocca, J Frank, HB Bentzen, JT Pantel, K Gerischer, A Bovier, ... American Journal of Medical Genetics Part A 194 (3), e63452, 2024 | 2 | 2024 |
| 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 |
| GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases H Lesmann, A Hustinx, S Moosa, H Klinkhammer, E Marchi, P Caro, ... medRxiv, 2023.06. 06.23290887, 2023 | 1 | 2023 |
| Drop of Prevalence after Population Expansion: A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase LL Rocca, J Frank, HB Bentzen, JT Pantel, K Gerischer, A Bovier, ... bioRxiv, 2021.09. 29.462290, 2021 | 1 | 2021 |
| PEDIA: prioritization of exome data by image analysis H Tzung-Chien, MA Mensah, JT Pantel, A Dione, B Omri, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 1 | 2019 |
| GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases TC Hsieh, H Lesmann, A Hustinx, S Moosa, E Marchi, MPC Martin, ... | | 2024 |
Prof. Dr. med., Dipl. Phys. Peter KrawitzInstitute for Genomic Statistics and BioinformaticsE-mailová adresa ověřena na: uni-bonn.de
