Author
Baylor College of MedicineORCID 0000-0002-2650-4691Unclaimed 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.
Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski…·Carlos A. Pardo-Villamizar
This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.
Samantha L. Deal, Danqing Bei, Shelley Gibson…·Shinya Yamamoto
The paper identifies regulators of dopamine and sleep in Drosophila by screening genes affecting cuticle pigmentation, finding novel genes like mask that influence dopamine metabolism and behavior.
Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward…·Emily Glanton
This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.
Hillary K. Graves, Sharayu V. Jangam, Kai Li Tan…·Michael F. Wangler
The paper identifies 18 Drosophila genes affecting peroxisomes through a genetic screen and links their human homologs to potential dominant genetic diseases.