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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 16, 2023
Computational facial analysis for rare Mendelian disordersTzung-Chien Hsieh, Peter M KrawitzCurrent Protocols|October 9, 2023
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic ScoresTzung-Chien Hsieh, Hellen Lesmann, Peter M KrawitzAmerican Journal of Medical Genetics. Part A|September 17, 2024
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype ExpansionAnna Hau, Anne Baxter, Kate Chandler, et al.Genes|March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial AnalysisMeghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.Journal of Inherited Metabolic Disease|April 7, 2018
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolismJean T Pantel, Max Zhao, Martin A Mensah, et al.Human Mutation|September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndromeFabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|October 24, 2022
[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis]Peter M KrawitzEuropean Journal of Human Genetics : EJHG|August 15, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patientsLily Guo, Jiyeon Park, Edward Yi, et al.Bioinformatics (Oxford, England)|July 25, 2012
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomesTom Kamphans, Peter M KrawitzStudies in Health Technology and Informatics|May 19, 2023
Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic DisordersÖmer Sümer, Fabio Hellmann, Alexander Hustinx, et al.Pageof 11