Author
Baylor College of MedicineORCID 0000-0003-2050-5084Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld…·Shamil R. Sunyaev
The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.
Brandon T. Garcia, Lauren E. Westerfield, Priya Yelemali…·Jennifer Ellen Posey
RAG-HPO improves HPO term assignment using retrieval-augmented generation, achieving higher precision and recall than existing tools in phenotypic analysis of clinical text.
Kristy L. Jay, Nikhita Gogate, Kimberly M. Ezell…·Michael F. Wangler
The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.
Jessica X. Chong, Seth Berger, Samantha M. Baxter…·Tanner D. Jensen
The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.
Nikhita Gogate, Daniel Lyman, Amanda L. Bell…·Raja Mazumder
The paper extends a cancer biomarker data model to create a COVID-19 biomarker knowledgebase, integrating 138 biomarkers and 265 type combinations with ontological annotations.