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Publications Conference Talks

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 GestaltMatcher Database:

GestaltMatcher Database
Lesmann, H. et al.
GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders.
medRxiv
2023   https://doi.org/10.1101/2023.06.06.23290887
GestaltMatcher
Hsieh, TC., Bar-Haim, A., Moosa, S. et al.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nature Genetics
2022   https://doi.org/10.1038/s41588-021-01010-x

Publications Referencing GestaltMatcher (108)

2025
  • Thompson, M., Zarate, Y., Ehmke, N., Horn, D., Krawitz, P., Knaus, A. P797: SATB2 variants in Glass syndrome: The clinical impact of novel variants in the context of misleading diagnoses Genetics in Medicine Open
    https://www.gimopen.org/article/S2949-7744(25)01205-1/fulltext
  • Hsieh, TC., Todd, D., Warner, D., Blankenship, K., Saade, D., Weiland, H., Bhasin, M., Klinkhammer, H., Li, JM. Krawitz, P., Chen, WL., Luk, HM., Tung, ML., Chandra, B. Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome medRxiv
    https://www.medrxiv.org/content/10.1101/2025.02.12.25321927v1
  • Kirchhoff, A., Hustinx, A., Javanmardi, B., Hsieh, TC., Brand, F., Hellmann, F., Mertes, S., André, E., Moosa, S., Schultz, T., Solomon, B., Krawitz, P. GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders European Journal of Human Genetics
    https://www.nature.com/articles/s41431-025-01787-z
  • Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., et al. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Annals of Neurology, 97(1), 76–89
    https://onlinelibrary.wiley.com/doi/10.1002/ana.27077
  • Chng, S. Y., Tern, M. J. W., Lee, Y. S., Cheng, L. T.-E., Kapur, J., Eriksson, J. G., Chong, Y. S., Savulescu, J. Ethical considerations in AI for child health and recommendations for child-centered medical AI npj Digital Medicine, 8, Article number: 152
    https://doi.org/10.1038/s41746-025-01541-1
  • Hellmann, F., Ristow, I., Well, L., Lohse, S., Anokhin, M., Kuhlen, M., André, E., Harder, A. Artificial intelligence-based tools for precision diagnosis and treatment of neurofibromatosis type 1 associated peripheral and central glial tumors Orphanet Journal of Rare Diseases, Volume 20, article number 551
    https://doi.org/10.1186/s13023-025-04093-5
  • Al Ojaimi, M., Banimortada, B. J., Alragheb, A., Hajir, R. S., Alves, C., Walid, D., Raza, A., El-Hattab, A. W. Molecular and clinical aspects of histone-related disorders Human Genomics, Volume 19, article number 47
    https://doi.org/10.1186/s40246-025-00734-9
  • Javanmardi, B., Waikel, R. L., Tkemaladze, T., Moosa, S., Küsshauer, A., Pantel, J. T., Fardipour, M., Krawitz, P., Solomon, B. D., Mohnike, K. Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals Orphanet Journal of Rare Diseases, Volume 20, article number 365
    https://doi.org/10.1186/s13023-025-03875-1
  • Hau, Anna, Baxter, Anne, Chandler, Kate, Fennell, Andrew, Hsieh, Tzung-Chien, Krawitz, Peter M., Pinner, Jason, Goel, Himanshu Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion American Journal of Medical Genetics Part A
    https://doi.org/10.1002/ajmg.a.63856
  • Hennocq, Quentin, Lienhard, Olivier, Rao, Dipesh, Amiel, Jeanne, Benichou, Ludovic, Bongibault, Thomas, Hidalgo, Ana-Julia Bravo, Cormier-Daire, Valerie, Lyonnet, Stanislas, Picard, Arnaud, Rio, Marlene, Zaiter, Ahmed, Garcelon, Nicolas, Tkemaladze, Tinatin, Khonsari, Roman H. Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome Clinical Genetics
    https://doi.org/10.1111/cge.14682
  • Mahdi, Soha S., Caldeira, Eduarda, Matthews, Harold, Vanneste, Michiel, Nauwelaers, Nele, Yuan, Meng, Bouritsas, Giorgos, Baynam, Gareth S., Hammond, Peter, Spritz, Richard, Klein, Ophir D., Bronstein, Michael, Hallgrimsson, Benedikt, Peeters, Hilde, Claes, Peter A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder IEEE Access
    https://doi.org/10.1109/ACCESS.2024.3524428
  • Duong, Dat, Solomon, Benjamin D. Artificial intelligence in clinical genetics European Journal of Human Genetics
    https://doi.org/10.1038/s41431-024-01782-w
  • Jenkins, Sabrina Malone, Palmquist, Rachel, Shayota, Brian J., Solorzano, Chelsea M., Bonkowsky, Joshua L., Estabrooks, Paul, Tristani-Firouzi, Martin Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies Pediatric Research
    https://doi.org/10.1038/s41390-025-03859-8
  • Sellin, Julia, Pantel, Jean Tori, Boersch, Natalie, Conrad, Rupert, Muecke, Martin Kurze Wege zur Diagnose mit künstlicher Intelligenz - systematische Literaturrecherche zu ,,diagnostic decision support systems'' Zeitschrift für Pneumologie
    https://doi.org/10.1007/s10405-025-00606-y
  • Pascolini, Giulia, Didona, Dario, Tarani, Luigi An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients Diagnostics
    https://doi.org/10.3390/diagnostics15050521
  • Verbinnen, Iris, Houge, Sofia Douzgou, Hsieh, Tzung-Chien, Lesmann, Hellen, Kirchhoff, Aron, Genevieve, David, Brimble, Elise, Lenaerts, Lisa, Haesen, Dorien, Levy, Rebecca J., Thevenon, Julien, Faivre, Laurence, Marco, Elysa, Chong, Jessica X., Bamshad, Mike, Patterson, Karynne, Mirzaa, Ghayda M., Foss, Kimberly, Dobyns, William, White, Susan M., Pais, Lynn, O'Heir, Emily, Itzikowitz, Raphaela, Donald, Kirsten A., van der Merwe, Celia, Mussa, Alessandro, Cervini, Raffaela, Giorgio, Elisa, Roscioli, Tony, Dias, Kerith-Rae, Evans, Carey-Anne, Brown, Natasha J., Ruiz, Anna, Quintero, Juan Pablo Trujillo, Rabin, Rachel, Pappas, John, Yuan, Hai, Lachlan, Katherine, Thomas, Simon, Devlin, Anita, Wright, Michael, Martin, Richard, Karwowska, Joanna, Posmyk, Renata, Chatron, Nicolas, Stark, Zornitza, Heath, Oliver, Delatycki, Martin, Buchert, Rebecca, Korenke, Georg-Christoph, Ramsey, Keri, Narayanan, Vinodh, Grange, Dorothy K., Weisenberg, Judith L., Haack, Tobias B., Karch, Stephanie, Kipkemoi, Patricia, Mangi, Moses, Heus, Karen G. C. B. Bindels de, Wit, Marie-Claire Y. de, Barakat, Tahsin Stefan, Lim, Derek, Van Winckel, Geraldine, Spillmann, Rebecca C., Shashi, Vandana, Jacob, Maureen, Stehr, Antonia M., Houge, Gunnar Douzgos, Janssens, Veerle, Krawitz, P Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum American Journal of Human Genetics
    https://doi.org/10.1016/j.ajhg.2025.01.021
  • Echeverry-Quiceno, L. M., Llambrich, S., Heredia-Lidon, A., Gimenez, S., Rozalem-Aranha, M., Inampudi, P., Heuze, Y., Sevillano, X., Fortea, J., Martinez-Abadias, N., Alzheimers Disease Neuroimaging Initiative Potential of facial biomarkers for Alzheimer's disease and obstructive sleep apnea in Down syndrome and general population FASEB Journal
    https://doi.org/10.1096/fj.202403009R
  • Reytan Miron, Sivan, Kurolap, Alina, Abu-Libdeh, Bassam, Abu-Libdeh, Abdel Salam, Velmans, Clara, Erger, Florian, Riehmer, Vera, Hsieh, Tzung-Chien, Lesmann, Hellen, Reches, Adi, Chai Gadot, Chofit, Mory, Adi, Al-Ashhab, Motee, Netzer, Christian, Damseh, Nadirah, Baris Feldman, Hagit LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort Journal of Medical Genetics
    https://doi.org/10.1136/jmg-2024-110574
  • Patel, Rahi, Makwana, Rikhil, Christ, Carolina, Marchi, Elaine, Miyake, Christina Y., Goncalves, Fabricio Guimaraes, Lyon, Gholson J., Whitehead, Matthew T. Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes Journal of Neuroradiology
    https://doi.org/10.1016/j.neurad.2025.101339
  • Germain, Dominique P., Gruson, David, Malcles, Marie, Garcelon, Nicolas Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease Orphanet Journal of Rare Diseases
    https://doi.org/10.1186/s13023-025-03655-x
  • Saparov, Alice, Zech, Michael Big data and transformative bioinformatics in genomic diagnostics and beyond Parkinsonism & Related Disorders
    https://doi.org/10.1016/j.parkreldis.2025.107311
  • Mak, Christopher C. Y., Klinkhammer, Hannah, Choufani, Sanaa, Reko, Nikola, Christman, Angela K., Pisan, Elise, Chui, Martin M. C., Lee, Mianne, Leduc, Fiona, Dempsey, Jennifer C., Sanchez-Lara, Pedro A., Bombei, Hannah M., Bernat, John A., Faivre, Laurence, Mau-Them, Frederic Tran, Palafoll, Irene Valenzuela, Canham, Natalie, Sarkar, Ajoy, Zarate, Yuri A., Callewaert, Bert, Bukowska-Olech, Ewelina, Jamsheer, Aleksander, Zankl, Andreas, Willems, Marjolaine, Duncan, Laura, Isidor, Bertrand, Cogne, Benjamin, Boute, Odile, Vanlerberghe, Clemence, Goldenberg, Alice, Stolerman, Elliot, Low, Karen J., Gilard, Vianney, Amiel, Jeanne, Lin, Angela E., Gordon, Christopher T., Doherty, Dan, Krawitz, Peter M., Weksberg, Rosanna, Hsieh, Tzung-Chien, Chung, Brian H. Y. Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics eBioMedicine
    https://doi.org/10.1016/j.ebiom.2025.105677
  • Song, Jie, He, Mengqiao, Zheng, Xin, Zhang, Yuxin, Bi, Cheng, Feng, Jinhua, Du, Jiale, Li, Hang, Shen, Bairong Face-based machine learning diagnostics: applications, challenges and opportunities Artificial Intelligence Review
    https://doi.org/10.1007/s10462-025-11246-2
  • Lubin, Emily E., Gonzalez, Elizabeth M., Sangree, Annabel K., Durham, Emily L., Klinkhammer, Hannah, Li, Jing-Mei, Smith, Sarina M., Layo-Carris, Dana E., Clark, Kelly J., Melendez-Perez, Ashley J., Wang, Xiao Min, Angireddy, Rajesh, Weiss, Erin E., Barakat, Tahsin Stefan, Mercier, Sandra, Cogne, Benjamin, Koene, Saskia, Hilhorst-Hofstee, Yvonne, Rydzanicz, Malgorzata, Ploski, Rafal, Cano, Maria de los Gomez, Palomares-Bralo, Maria, Arevalo, Tania Barragan, Tan, Tiong Yang, Gallacher, Lyndon, MacFarland, Suzanne P., Ahrens-Nicklas, Rebecca C., Nomakuchi, Tomoki T., Bhoj, Elizabeth J. K. Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies Human Genetics and Genomics Advances
    https://doi.org/10.1016/j.xhgg.2025.100440
  • Makay, Prince, Mubungu, Gerrye, Tshilobo, Prosper Lukusa, Devriendt, Koenraad, Lumaka, Aime Automated Evaluation of D-Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders Annals of Human Genetics
    https://doi.org/10.1111/ahg.12598
  • Solomon, Benjamin D., Cheatham, Morgan, de Guimaraes, Thales A. C., Duong, Dat, Haendel, Melissa A., Hsieh, Tzung-Chien, Javanmardi, Behnam, Johnson, Britt, Krawitz, Peter, Kruszka, Paul, Laurent, Tim, Lee, Ni-Chung, McWalter, Kirsty, Michaelides, Michel, Mohnike, Klaus, Pontikos, Nikolas, Sacoto, Maria J. Guillen, Shwetar, Yousif J., Ustach, Vincent D., Waikel, Rebekah L., Woof, William Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics American Journal of Medical Genetics Part A
    https://doi.org/10.1002/ajmg.a.64118
  • Karuntu, Jessica S., Almushattat, Hind, Nguyen, Xuan-Thanh-An, Plomp, Astrid S., Wanders, Ronald J. A., Hoyng, Carel B., van Schooneveld, Mary J., Schalij-Delfos, Nicoline E., Brandsi, Marion M., Leroy, Bart P., van Karnebeeki, Clara D. M., Bergen, Arthur A., van Genderen, Maria M., Boon, Camiel J. F. Syndromic retinitis pigmentosa Progress in Retinal and Eye Research
    https://doi.org/10.1016/j.preteyeres.2024.101324
  • Wenderott, Katharina, Krups, Jim, Zaruchas, Fiona, Krawitz, Peter, Weigl, Matthias, Lesmann, Hellen Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene European Journal of Human Genetics
    https://doi.org/10.1038/s41431-025-01875-0
  • Tzimourta, Katerina D. Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions Sensors
    https://doi.org/10.3390/s25113420
  • Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Bjoern, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphne, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Desiree, Donge, Mylene, Deb, Wallid, Poueriet, Katlin A. De La Rosa, Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, Abou Jamra, Rami Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders Genetics in Medicine
    https://doi.org/10.1016/j.gim.2024.101326
  • Pontikos, Nikolas, Woof, William A., Lin, Siying, Ghoshal, Biraja, Mendes, Bernardo S., Veturi, Advaith, Nguyen, Quang, Javanmardi, Behnam, Georgiou, Michalis, Hustinx, Alexander, Ibarra-Arellano, Miguel A., Moghul, Ismail, Liu, Yichen, Pfau, Kristina, Pfau, Maximilian, Shah, Mital, Yu, Jing, Al-Khuzaei, Saoud, Wagner, Siegfried K., Daich Varela, Malena, Cabral de Guimaraes, Thales Antonio, Sen, Sagnik, Naik, Gunjan, Sumodhee, Dayyanah, Fu, Dun Jack, Kabiri, Nathaniel, Furman, Jennifer, Liefers, Bart, Lee, Aaron Y., De Silva, Samantha R., Marques, Caio, Motta, Fabiana, Fujinami-Yokokawa, Yu, Hardcastle, Alison J., Arno, Gavin, Lorenz, Birgit, Herrmann, Philipp, Fujinami, Kaoru, Sallum, Juliana, Madhusudhan, Savita, Downes, Susan M., Holz, Frank G., Balaskas, Konstantinos, Webster, Andrew R., Mahroo, Omar A., Krawitz, Peter M., Michaelides, Michel Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene Nature Machine Intelligence
    https://doi.org/10.1038/s42256-025-01040-8
  • Alsentzer, Emily, Li, Michelle M., Kobren, Shilpa N., Noori, Ayush, Kohane, Isaac S., Zitnik, Marinka, Undiagnosed Diseases Network Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases npj Digital Medicine
    https://doi.org/10.1038/s41746-025-01749-1
  • Houge, Gunnar Douzgos, Houge, Sofia Douzgou, Hsieh, Tzung-Chien, Verbinnen, Iris, Janssens, Veerle Houge-Janssens syndrome European Journal of Human Genetics
    https://doi.org/10.1038/s41431-025-01901-1
  • Politano, Davide, Mancini, Cecilia, Celario, Massimiliano, Radio, Francesca Clementina, D'Abrusco, Fulvio, Garau, Jessica, Kalantari, Silvia, Visani, Gaia, Carbonera, Simone, Gana, Simone, Ferilli, Marco, Chiriatti, Luigi, Cappelletti, Camilla, Ellena, Katia, Prodi, Elena, Borgatti, Renato, Valente, Enza Maria, Orcesi, Simona, Tartaglia, Marco, Sirchia, Fabio Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency Genes
    https://doi.org/10.3390/genes16070799
  • Rudy, Natasha L., Gomes, Adriana, Tkemaladze, Tinatin, Abdul-Rahman, Omar, Cratsenberg, Drew, Pascolini, Giulia, Di Zenzo, Giovanni, Castiglia, Daniele, Black, Emily, Washington, Camerun, Chad, Lauren, Curry, Cynthia, Del Campo, Miguel, Fleischer, Nicole, Bird, Lynne M., Hurst, Anna C. E. Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene American Journal of Medical Genetics Part A
    https://doi.org/10.1002/ajmg.a.64171
  • Kusikova, Katarina, Hsieh, Tzung-Chien, Pfeifer, Mateja, Fauth, Christine, Murakami, Yoshiko, Laccone, Franco, Karall, Daniela, Bonfig, Walter, Stewart, Helen, Weis, Denisa Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool Frontiers in Genetics
    https://doi.org/10.3389/fgene.2025.1598602
  • Xiong, Ziyi, Li, Yi, Liu, Xianjing, Lu, Haojie, Hysi, Pirro G., Pardo, Luba M., Uitterlinden, Andre G., Rivadeneira, Fernando, Ikram, M. Arfan, Ghanbari, Mohsen, Wolvius, Eppo B., Roshchupkin, Gennady V., Richmond, Stephen, Nijsten, Tamar, Spector, Timothy D., Wang, Sijia, Liu, Fan, Kayser, Manfred Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction Nature Communications
    https://doi.org/10.1038/s41467-025-61761-7
  • Patel, Rahi, Makwana, Rikhil, Marchi, Elaine, Fan, Ziyi, Falsey, Erin, Menendez, Beatriz, Giampietro, Philip, Wentzensen, Ingrid M., Hsieh, Tzung-Chien, Shan, Shu-ou, Lyon, Gholson J. HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features Clinical Genetics
    https://doi.org/10.1111/cge.70039
  • Fabre, A., Aouchiche, K., Reynaud, R. Poorly described phenotypes add to the misfortune of rare diseases European Journal of Medical Genetics
    https://doi.org/10.1016/j.ejmg.2025.105034
  • Wilke, Matheus Vernet Machado Bressan, Panwar, Deepak, Verheijen, Johannes M., Umeshita, Saori, Thurman, Sarah Allen, Nickels, Katherine, Darr, Kahlen, Murakami, Yoshiko, Klee, Eric, Schimmenti, Lisa A., Pinto e Vairo, Filippo Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report American Journal of Medical Genetics Part A
    https://doi.org/10.1002/ajmg.a.64220
  • Heredia-Lidon, Alvaro, Echeverry-Quiceno, Luis M., Gonzalez, Alejandro, Hostalet, Noemi, Pomarol-Clotet, Edith, Fortea, Juan, Fatjo-Vilas, Mar, Martinez-Abadias, Neus, Sevillano, Xavier, Alzheimers Disease Neuroimaging Initiative BioFace3D: An end-to-end open-source software for automated extraction of potential 3D facial biomarkers from MRI scans Computer Methods and Programs in Biomedicine
    https://doi.org/10.1016/j.cmpb.2025.109010
  • del Rincon, Julia, Gil-Salvador, Marta, Lucia-Campos, Cristina, Acero, Laura, Trujillano, Laura, Arnedo, Maria, Pamplona, Pilar, Ayerza-Casas, Ariadna, Puisac, Beatriz, Ramos, Feliciano J., Pie, Juan, Latorre-Pellicer, Ana Latorre-Pellicer AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes International Journal of Molecular Sciences
    https://doi.org/10.3390/ijms26167964
  • Song, Jie, Xu, Zhichuan, He, Mengqiao, Feng, Jinhua, Shen, Bairong Graph retrieval augmented large language models for facial phenotype associated rare genetic disease npj Digital Medicine
    https://doi.org/10.1038/s41746-025-01955-x
  • Kornak, Uwe AI in genetic diagnostics Osteologie
    https://doi.org/10.1055/a-2721-0454
  • Benichou, Ludovic, Breton, Luan, Garcelon, Nicolas, Benichou, Benjamin, Lienhard, Olivier, Amiel, Jeanne, Bongibault, Thomas, Hidalgo, Ana-julia Bravo, Cormier-Daire, Valerie, Lyonnet, Stanislas, Picard, Arnaud, Rio, Marlene, Zaiter, Ahmed, Khonsari, Roman H., Hennocq, Quentin Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology American Journal of Medical Genetics Part A
    https://doi.org/10.1002/ajmg.a.64298
  • Vanneste, Michiel, Matthews, Harold, Sleyp, Yoeri, Hammond, Peter, Shriver, Mark, Weinberg, Seth M., Marazita, Mary L., Walsh, Susan, Hallgrimsson, Benedikt, Klein, Ophir D., Spritz, Richard, Van Den Bogaert, Kris, Claes, Peter, Peeters, Hilde Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome Journal of Medical Genetics
    https://doi.org/10.1136/jmg-2025-110940
  • Gripp, Karen W. Artificial intelligence supported facial feature analysis in medical genetics Current Opinion in Pediatrics
    https://doi.org/10.1097/MOP.0000000000001487
  • Kušíková, Kristína, Hsieh, Tzung-Chien, Pfeifer, Martina, Fauth, Christine, Murakami, Yoshiko, Laccone, Franco, Karall, Daniela, Bonfig, Walter, Stewart, Helen, Weis, Denisa. Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool Frontiers in Genetics
    https://doi.org/10.3389/fgene.2025.1598602
  • Gupta, S., Bawa, P., Kumari, A., Panigrahi, I., Srivastava, P., Kaur, A. Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort European Journal of Medical Genetics
    https://doi.org/10.1016/j.ejmg.2025.105063
  • Mak, C. C. Y., Klinkhammer, H., Choufani, S., Reko, N., Christman, A. K., Pisan, E., Chui, M. M. C., Lee, M., Leduc, F., Dempsey, J. C., Sanchez-Lara, P. A., Bombei, H. M., Bernat, J. A., Faivre, L., Tran Mau-Them, F., Valenzuela Palafoll, I., Canham, N., Sarkar, A., Zarate, Y. A., Callewaert, B., Bukowska-Olech, E., Jamsheer, A., Zankl, A., Willems, M., Duncan, L., Isidor, B., Cogne, B., Boute, O., Vanlerberghe, C., Goldenberg, A., Stolerman, E., Low, K. J., Gilard, V., Amiel, J., Lin, A. E., Gordon, C. T., Doherty, D., Krawitz, P. M., Weksberg, R., Hsieh, T.-C., Chung, B. H. Y. Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics eBioMedicine, 115, 105677
    https://doi.org/10.1016/j.ebiom.2025.105677
  • Song, J., He, M., Zheng, X., Zhang, Y., Bi, C., Feng, J., Du, J., Li, H., Shen, B. Face-based machine learning diagnostics: applications, challenges and opportunities Artificial Intelligence Review, Volume 58, article number 243
    https://doi.org/10.1007/s10462-025-11246-2
  • Reytan Miron, S., Kurolap, A., Abu-Libdeh, B., Abu-Libdeh, A. S., Velmans, C., Erger, F., Riehmer, V., Hsieh, T.-C., Lesmann, H., Reches, A., Chai Gadot, C., Mory, A., Al-Ashhab, M., Netzer, C., Damseh, N., Baris Feldman, H. LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort Journal of Medical Genetics, 62(7), 441–449
    https://jmg.bmj.com/content/62/7/441
  • Kornak, U. KI in der humangenetischen Diagnostik (AI in genetic diagnostics) Osteologie, 34(4), 275–279
    https://www.thieme-connect.com/products/ejournals/abstract/10.1055/a-2721-0454
  • He, M., Song, J., Ren, S., Zhang, Y., Du, J., Feng, J., Wu, R., Shen, B. A Knowledge Graph Analytical Platform for Facial Phenotype–Genotype–Disease Associations in Rare Genetic Diseases Research Square (preprint)
    https://doi.org/10.21203/rs.3.rs-6601903/v1
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    https://doi.org/10.1038/s41467-025-65556-8
  • Wu, D., Wang, Z., Nguyen, Q., Xu, Z., Wang, K. Multimodal Integrated Knowledge Transfer to Large Language Models through Preference Optimization with Biomedical Applications arXiv preprint arXiv:2505.05736
    https://doi.org/10.48550/arXiv.2505.05736
  • Wu, D., Wang, Z., Nguyen, Q. M., Xu, Z., Wang, K. MINT: Multimodal Integrated Knowledge Transfer to Large Language Models through Preference Optimization with Biomedical Applications In ICML 2025 GenBio Workshop (OpenReview preprint)
    https://openreview.net/forum?id=yhvHryyw80
2024
  • Rezende, R. C., Menezes de Andrade, N. L., Branco Dantas, N. C., de Polli Cellin, L., Victorino Krepischi, A. C., Lerario, A. M., & de Lima Jorge, A. A. Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders. The Journal of Pediatrics, Volume 265, 113841
    https://doi.org/10.1016/j.jpeds.2023.113841
  • Ahimaz, P., Bergner, A. L., Florido, M. E., Harkavy, N., & Bhattacharyya, S. Genetic counselors’ utilization of ChatGPT in professional practice: A cross-sectional study. American Journal of Medical Genetics. Part A, Volume194, Issue4
    https://doi.org/10.1002/ajmg.a.63493
  • Sellin, J., Pantel, J. T., Börsch, N., Conrad, R., & Mücke, M. Kurze Wege zur Diagnose mit künstlicher Intelligenz – systematische Literaturrecherche zu „diagnostic decision support systems“ Der Schmerz, Volume 38, pages 19–27
    https://doi.org/10.1007/s00482-023-00777-8
  • Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F., Möller, S., Florenceau, L., Cuinat, S., … Krüger, E. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv
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  • Rigter, P. M. F., de Konink, C., Dunn, M. J., Proietti Onori, M., Humberson, J. B., Thomas, M., Barnes, C., Prada, C. E., Weaver, K. N., Ryan, T. D., Caluseriu, O., Conway, J., Calamaro, E., Fong, C.-T., Wuyts, W., Meuwissen, M., Hordijk, E., Jonkers, C. N., Anderson, L., … van Woerden, G. M. Role of CAMK2D in neurodevelopment and associated conditions. American Journal of Human Genetics
    https://doi.org/10.1016/j.ajhg.2023.12.016
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    https://doi.org/10.1007/s40290-023-00504-9
  • Arlt, A., Knaus, A., Hsieh, T.-C., Klinkhammer, H., Bhasin, M. A., Hustinx, A., Moosa, S., Krawitz, P., & Ekure, E. Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome. American Journal of Medical Genetics. Part A, Volume 194, Issue 9
    https://doi.org/10.1002/ajmg.a.63641
  • Laugwitz, L., Cheng, F., Collins, S. C., Hustinx, A., Navarro, N., Welsch, S., Cox, H., Hsieh, T.-C., Vijayananth, A., Buchert, R., Bender, B., Efthymiou, S., Murphy, D., Zafar, F., Rana, N., Grasshoff, U., Falb, R. J., Grimmel, M., Seibt, A., … Haack, T. B. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain: A Journal of Neurology, Volume 147, Issue 7
    https://doi.org/10.1093/brain/awae058
  • Duong, D., Johny, A. R., Ledgister Hanchard, S., Fortney, C., Flaharty, K., Hellmann, F., Hu, P., Javanmardi, B., Moosa, S., Patel, T., Persky, S., Sümer, Ö., Tekendo-Ngongang, C., Lesmann, H., Hsieh, T.-C., Waikel, R. L., André, E., Krawitz, P., & Solomon, B. D. Comparison of clinical geneticist and computer visual attention in assessing genetic conditions. PLoS Genetics, 20(2), e1011168
    https://doi.org/10.1371/journal.pgen.1011168
  • Waikel, R. L., Othman, A. A., Patel, T., Ledgister Hanchard, S., Hu, P., Tekendo-Ngongang, C., Duong, D., & Solomon, B. D. Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence. JAMA Network Open, Volume 7, No. 3
    https://doi.org/10.1001/jamanetworkopen.2024.2609
  • Reiter, A. M. V., Pantel, J. T., Danyel, M., Horn, D., Ott, C.-E., & Mensah, M. A. Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study. Journal of Medical Internet Research, Volume 26
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  • Schwartzmann, S., Zhao, M., Sczakiel, H. L., Hildebrand, G., Ehmke, N., Horn, D., Mensah, M. A., & Boschann, F. RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American Journal of Medical Genetics. Part A, Volume 194, Issue 7
    https://doi.org/10.1002/ajmg.a.63599
  • Yang, X., Li, R., Yang, X., Zhou, Y., Liu, Y., & Han, J.-D. J. Coordinate-wise monotonic transformations enable privacy-preserving age estimation with 3D face point cloud. Science China. Life Sciences
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  • Cox, E. G. M., van Bussel, B. C. T., Campillo Llamazares, N., Sels, J.-W. E. M., Onrust, M., van der Horst, I. C. C., Koeze, J., & SICS Study Group. Facial appearance associates with longitudinal multi-organ failure: an ICU cohort study. Critical Care / the Society of Critical Care Medicine, Volume 28, article number 106
    https://doi.org/10.1186/s13054-024-04891-6
  • Wu, D., Yang, J., Liu, C., Hsieh, T.-C., Marchi, E., Blair, J., Krawitz, P., Weng, C., Chung, W., Lyon, G. J., Krantz, I. D., Kalish, J. M., & Wang, K. GestaltMML: Enhancing rare genetic disease diagnosis through multimodal machine learning combining facial images and clinical texts. ArXiv
    https://europepmc.org/article/med/38711434
  • Lemke, J. R., Brandt, C., & Krawitz, P. Michael’s missed genetic diagnosis. Epileptology
    https://doi.org/10.1007/s10309-024-00674-9
  • do Olmo, J., Logroño, J., Mascías, C., Martínez, M., & Isla, J. Assessing DxGPT: Diagnosing rare diseases with various large language models. bioRxiv
    https://doi.org/10.1101/2024.05.08.24307062
  • Thompson, M. D., & Knaus, A. Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders. Genes, Volume 15, Issue 5
    https://doi.org/10.3390/genes15050619
  • Huang, Y., Sun, H., Chen, Q., Shen, J., Han, J., Shan, S., & Wang, S. Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome. BMC Pediatrics, Volume 24, article number 361
    https://doi.org/10.1186/s12887-024-04827-7
  • Sherif, F. F., Tawfik, N., Mousa, D., Abdallah, M. S., Cho, Y.-I. Automated Multi-Class Facial Syndrome Classification Using Transfer Learning Techniques Bioengineering, Volume 11(8), 827
    https://doi.org/10.3390/bioengineering11080827
  • Di Donato, N., Thom, A., Rump, A., Greve, J. N., Kropp, M., Cadiñanos, J., Calabrò, S., Cathey, S., Chung, B., Cope, H., Costales, M., Cuvertino, S., Dinkel, P., Erripi, K., Fry, A. E., Garavelli, L., Guan, K., Hoffjan, S., Janzarik, W. G., Koenig, M., Kreimer, I., Kuenzel, K., Mancini, G., Marín-Reina, P., Meinhardt, A., Niehaus, I., Pilz, D., Ricca, I., Santos-Simarro, F., Schrock, E., Marquardt, A., Taft, M. H., Tezcan, K., Thunström, S., Verhagen, J., Verloes, A., Wollnik, B., Krawitz, P., Hsieh, T., Zeef, L., Seifert, M., Heide, M., Lawrence, C. B., Roberts, N., Manstein, D., Woolf, A. S., Banka, S. Genomic and biological panoramas of non-muscle actinopathies medRxiv (preprint)
    https://doi.org/10.1101/2024.08.21.24310320
  • Arlt, A., Knaus, A., Hsieh, T.-C., Klinkhammer, H., Bhasin, M. A., Hustinx, A., Moosa, S., Krawitz, P., Ekure, E. Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome American Journal of Medical Genetics Part A
    https://doi.org/10.1002/ajmg.a.63641
  • Bhasin, M. A., Knaus, A., Incardona, P., Schmid, A., Holtgrewe, M., Elbracht, M., Krawitz, P. M., Hsieh, T.-C. Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis Genes, Volume 15 (3), 370
    https://doi.org/10.3390/genes15030370
  • Schmetz, A., Lüdecke, H.-J., Surowy, H., Sivalingam, S., Bruel, A.-L., Caumes, R., Charles, P., Chatron, N., Chrzanowska, K., Codina-Solà, M., Colson, C., Cuscó, I., Denommé-Pichon, A.-S., Edery, P., Faivre, L., Green, A., Heide, S., Hsieh, T.-C., Hustinx, A., Kleinendorst, L., Knopp, C., Kraft, F., Krawitz, P. M., Lasa-Aranzasti, A., Lesca, G., López-González, V., Maraval, J., Mignot, C., Neuhann, T., Netzer, C., Oehl-Jaschkowitz, B., Petit, F., Philippe, C., Posmyk, R., Putoux, A., Reis, A., Sánchez-Soler, M. J., Suh, J., Tkemaladze, T., Tran Mau Them, F., Travessa, A., Trujillano, L., Valenzuela, I., van Haelst, M. M., Vasileiou, G., Vincent-Delorme, C., Walther, M., Verde, P., Bramswig, N. C., Wieczorek, D. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals Human Genetics, Volume 143, pages 71–84
    https://doi.org/10.1007/s00439-023-02622-5
2023
  • Sümer, Ö, Waikel, R. L., Hanchard, S. E. L., Duong, D., Krawitz, P., Conati, C., Solomon, B. D., & André, E Region-based Saliency Explanations on the Recognition of Facial Genetic Syndromes. PMLR Proceedings of Machine Learning Research , Volume 219
    https://proceedings.mlr.press/v219/sumer23a.html
  • Svensson, A. M., & Jotterand, F. Emergence of artificial intelligence in health care: a critical review. In Handbook of Critical Studies of Artificial Intelligence (pp. 783–792). Edward Elgar Publishing
    https://doi.org/10.4337/9781803928562.00079
  • Hsieh, T.-C., & Krawitz, P. M. Computational facial analysis for rare Mendelian disorders. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, Volume193, Issue3
    https://doi.org/10.1002/ajmg.c.32061
  • Forwood, C., Ashton, K., Zhu, Y., Zhang, F., Dias, K.-R., Standen, K., Evans, C.-A., Carey, L., Cardamone, M., Shalhoub, C., Katf, H., Riveros, C., Hsieh, T.-C., Krawitz, P., Robinson, P. N., Dudding-Byth, T., Sadikovic, B., Pinner, J., Buckley, M. F., & Roscioli, T. Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
    https://doi.org/10.1002/ajmg.c.32056
  • Roberto, H., Yoanna, M.-D., Heydi, M.-V., Joan, N., & Augusto, G. Face morphometric profiles of groups as early markers for certain diseases? International Journal of Oral and Craniofacial Science, 9(2), 008–015
    https://doi.org/10.17352/2455-4634.000060
  • Hollstein, R., Peron, A., Wendt, K. S., & Parenti, I. Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches. Frontiers in Cell and Developmental Biology, 11, 1296885
    https://doi.org/10.3389/fcell.2023.1296885
  • Hsieh, T.-C., Lesmann, H., & Krawitz, P. M. Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores. Current Protocols, 3(10), e906
    https://doi.org/10.1002/cpz1.906
  • Krawitz, P. Auf künstliche Intelligenz gestützte Bildanalyse bei seltenen Erkrankungen mit fazialer Dysmorphie. Die Innere Medizin, Volume 64, pages 1041–1043
    https://doi.org/10.1007/s00108-023-01616-9
  • Carrer, A., Romaniello, M. G., Calderara, M. L., Mariani, M., Biondi, A., & Selicorni, A. Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives. American Journal of Medical Genetics. Part A, Volume 194, Issue 3, e63459
    https://doi.org/10.1002/ajmg.a.63459
  • Rassmann, S., Keller, A., Skaf, K., Hustinx, A., Gausche, R., Ibarra-Arrelano, M. A., Hsieh, T.-C., Madajieu, Y. E. D., Nöthen, M. M., Pfäffle, R., Attenberger, U. I., Born, M., Mohnike, K., Krawitz, P. M., & Javanmardi, B. Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias. Pediatric Radiology
    https://doi.org/10.1007/s00247-023-05789-1
  • Kušíková, K., Šoltýsová, A., Ficek, A., Feichtinger, R. G., Mayr, J. A., Škopková, M., Gašperíková, D., Kolníková, M., Ornig, K., Kalev, O., Weis, S., & Weis, D. Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes, Volume 14, Issue 12
    https://doi.org/10.3390/genes14122174
  • Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Kremlíková Pourová, R., Sedlacek, Z., Keena, B. A., March, M. E., … Hakonarson, H. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation
    https://doi.org/10.1172/JCI171235
2022
  • 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 Sajid Hussain. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway HGGAdvances, Volume 3, Issue 3
    https://doi.org/10.1016/j.xhgg.2022.100111
  • Tzung-Chien Hsieh Next-generation phenotyping for rare Mendelian disorders Dissertation, Rheinische Friedrich-Wilhelms-Universität Bonn
    https://nbn-resolving.org/urn:nbn:de:hbz:5-67525
  • Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht and Thomas Eggermannv Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives Endocrine Connections
    https://doi.org/10.1530/EC-22-0277
  • Nina Hallowell1, Shirlene Badger, Aurelia Sauerbrei, Christofer Nellåker and Angeliki Kerasidou “I don’t think people are ready to trust these algorithms at face value”: trust and the use of machine learning algorithms in the diagnosis of rare disease BMC Medical Ethics
    https://doi.org/10.1186/s12910-022-00842-4
  • Andrea D'Souza, Emory Ryan, and Ellen Sidransky Facial features of lysosomal storage disorders Expert Review of Endocrinology & Metabolism
    https://doi.org/10.1080/17446651.2022.2144229
  • Fabian Brand, Aswinkumar Vijayananth, Tzung‐Chien Hsieh, Axel Schmidt, Sophia Peters, Elisabeth Mangold, Kirsten Cremer, Tim Bender, Sugirthan Sivalingam, Hela Hundertmark, Alexej Knaus, Hartmut Engels, Peter M. Krawitz, Claudia Perne. Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome Human Mutation
    https://doi.org/10.1002/humu.24467
  • Ömer Sümer, Fabio Hellmann, Alexander Hustinx, Tzung-Chien Hsieh, Elisabeth André, Peter Krawitz Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders arXiv
    https://doi.org/10.48550/arXiv.2210.12705
  • Tara N. Yankee, Andrea Wilderman, Emma Wentworth Winchester, Jennifer VanOudenhove, and Justin Cotney. Integrative analysis of transcriptomics in human craniofacial development reveals novel candidate disease genes bioRxiv
    https://doi.org/10.1101/2022.02.28.482338
  • Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, and Bert B A de Vries PhenoScore: AI-based phenomics to quantify rare disease and genetic variation medRxiv
    https://doi.org/10.1101/2022.10.24.22281480
  • 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 arXiv
    https://doi.org/10.48550/arXiv.2211.06764
  • Peter M. Krawitz Künstliche Intelligenz bei der Diagnose Seltener Erkrankungen: die Entwicklung der Phänotyp-Analyse Bundesgesundheitsblatt, Volume 65, pages 1159–1163,
    https://doi.org/10.1007/s00103-022-03602-2
  • Gholson J. Lyon, Marall Vedaie, Travis Besheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Katherine Sandomirsky, Hanyin Cheng, Isabelle Preddy, Marcellus Tseng, Quan Li, Kai Wang, Maureen Gavin, Karen Amble, Ronen Marmorstein, Ellen Herr-Israel. Expanding the Phenotypic spectrum of Ogden syndrome (NAA10-related neurodevelopmental syndrome) and NAA15-related neurodevelopmental syndrome medRxiv
    https://doi.org/10.1101/2022.08.22.22279061
  • Sunha Park, Jaewon Kim, Tae-Young Song and Dae-Hyun Jang Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome Frontiers in Genetics
    https://doi.org/10.3389/fgene.2022.903199
2021
  • 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
    https://doi.org/10.1101/2021.11.18.21266480
  • 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
    https://doi.org/10.1101/2021.12.07.21266342

Conference Talks

Conference talk video
Tzung-Chien Hsieh, et al.
GestaltMatcher research platform facilitates the novel gene-phenotype exploration
GfH-Jahrestagung 2022, Würzburg, Germany
Oral presentation, GfH-Jahrestagung 2022 in Würzburg, Germany
Tzung-Chien Hsieh, et al.
Removing confounders from facial representations trained on the biased patient images.
European Human Genetics Conference, Virtual
Oral presentation in Bioinformatics, machine learning and statistical learning session, European Human Genetics Conference, August 2021, Virtual
Hellen Lesmann
31st European Dysmorphology and ERN ITHACA Meeting
31st European Dysmorphology and ERN ITHACA Meeting
Hellen Lesmann's talk at the 31st European Dysmorphology and ERN ITHACA Meeting in 2021
Tzung-Chien Hsieh, et al.
GestaltMatch: breaking the limits of rare Mendelian disorder diagnosis by matching patients with next-generation phenotyping.
European Human Genetics Conference, Virtual
Oral presentation in Novel Bioinformatics and Machine-Learning methods session, European Human Genetics Conference, June 2020, Virtual
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.
European Human Genetics Conference, Gothenburg, Sweden
Talk in Bioinformatics and multiomics Session, European Human Genetics Conference, June 15-18, 2019, Gothenburg, Sweden