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Current Protocols|October 9, 2023
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic ScoresTzung-Chien Hsieh, Hellen Lesmann, Peter M Krawitz
European Journal of Human Genetics : EJHG|May 23, 2025
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2GeneKatharina Wenderott, Jim Krups, Fiona Zaruchas, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 6, 2024
The future role of facial image analysis in ACMG classification guidelinesHellen Lesmann, Hannah Klinkhammer, Prof Dr Med Dipl Phys Peter M Krawitz
Journal of Medical Genetics|April 9, 2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.
Plos Genetics|February 27, 2024
Comparison of clinical geneticist and computer visual attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
PHIP-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, 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.
European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
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