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GestaltMatcher database is a service operated by the Association for Genome Diagnostics (AGD), which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

We politely request that any use of data obtained from the GestaltMatcher Database browser cite the GestaltMatcher flagship paper and any online resources that include the data set provide a link to the browser. There is no need to include us as authors on your manuscript, unless we contributed specific advice or analysis for your work.

Citing GestaltMatcher

If you would like to use our database and cite our work, please cite our paper and GestaltMacher Database:

Hsieh, TC., Bar-Haim, A., Moosa, S. et al. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet (2022). https://doi.org/10.1038/s41588-021-01010-x (PDF)

Publications Referencing GestaltMatcher (3)

    2022
  1. Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra G. Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Italian Undiagnosed Diseases Network, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C. E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad SajidHussain. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGGAdvances (2022) https://doi.org/10.1016/j.xhgg.2022.100111

    2. 2021
  2. Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina MW Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn CJ Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer A Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krueger, Stéphane Bézieau, Care4Rare Canada Consortium. De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies. medRxiv (2021) https://doi.org/10.1101/2021.12.07.21266342

  3. Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Yana Kibalnyk, Anastassia Voronova, Tzung-Chien Hsieh, Peter M Krawitz, Gholson J Lyon. KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients. medRxiv (2021) https://doi.org/10.1101/2021.11.18.21266480

Conference Talk

  • Tzung Chien Hsieh's talk at the ESHG2019 in Gothenburg, Sweden

    Tzung-Chien Hsieh, A. Bar-Haim, D. Dukić, T.J. Pantel, M. Mensah, Y. Gurovich, N. Fleischer, Y. Hanani, G. Nadav, T. Kamphans, P. Krawitz. "GestaltMatcher: Identifying the second patient of its kind in the phenotype space." Talk in Bioinformatics and multiomics Session, European Human Genetics Conference, June 15-18, 2019, Gothenburg, Sweden

  • Hellen Lesmann's talk at the 31st European Dysmorphology and ERN ITHACA Meeting in 2021

  • Tzung Chien Hsieh's talk at the ESHG2020

    Tzung-Chien Hsieh, et al. “GestaltMatch: breaking the limits of rare Mendelian disorder diagnosis by matching patients with next-generation phenotyping.” Oral presentation in Novel Bioinformatics and Machine-Learning methods session, European Human Genetics Conference, June 2020, Virtual

  • Tzung Chien Hsieh's talk at the EHGC2021

    Tzung-Chien Hsieh, et al. “Removing confounders from facial representations trained on the biased patient images.” Oral presentation in Bioinformatics, machine learning and statistical learning session, European Human Genetics Conference, August 2021, Virtual

  • Tzung Chien Hsieh's talk at the EHGC2021

    Tzung-Chien Hsieh, et al. "GestaltMatcher research platform facilitates the novel gene-phenotype exploration" Oral presentation, GfH-Jahrestagung 2022 in Würzburg, Germany