Author
Alfred I. duPont Hospital for ChildrenORCID 0000-0001-8200-1733Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa…·Peter Michael Krawitz
GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.
Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu
The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.
Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel…·Peter Michael Krawitz
The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.
Andrew R. Grant, Brandon J. Cushman, Hélène Cavé…·Martin Zenker
The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.