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Studies 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.American Journal of Medical Genetics. Part A|May 10, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndromeAnnabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, et al.European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.Pediatric Radiology|November 12, 2023
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasiasSebastian Rassmann, Alexandra Keller, Kyra Skaf, et al.Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.Nature Machine Intelligence|June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2GeneNikolas Pontikos, William A Woof, Siying Lin, et al.Human Genetics|December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsAriane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.Pageof 2