Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: March 23, 2026
Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases.
Journal: NPJ digital medicine
Published: October 02, 2025
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Journal: American journal of human genetics
Published: March 04, 2025
Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII-Task 3 competition.
Journal: Database : the journal of biological databases and curation
Published: October 17, 2024
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
Journal: American journal of medical genetics. Part A
Published: February 21, 2024
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Journal: NPJ digital medicine
Published: November 10, 2023
PhenoID, a language model normalizer of physical examinations from genetics clinical notes.
Journal: medRxiv : the preprint server for health sciences
Published: October 31, 2023
Cell-autonomous requirement for ACE2 across organs in lethal mouse SARS-CoV-2 infection.
Journal: PLoS biology
Published: November 15, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Journal: Pediatrics
Published: April 01, 2022
SARS-CoV-2 infection of olfactory epithelial cells and neurons drives acute lung injury and lethal COVID-19 in mice.
Journal: bioRxiv : the preprint server for biology
Published: December 15, 2021
Menin-mediated Repression of Glycolysis in Combination with Autophagy Protects Colon Cancer Against Small-molecule EGFR Inhibitors.
Journal: Molecular cancer therapeutics
Published: February 14, 2020
HDAC3 ensures stepwise epidermal stratification via NCoR/SMRT-reliant mechanisms independent of its histone deacetylase activity.
Journal: Genes & development
Published: October 08, 2019
Last Updated: 09/26/2026