Author
Baylor College of MedicineORCID 0000-0002-0857-133XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 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.
Jose S. Campos, Montana Knight, Samir U. Sayed…·Sarah Emily Henrickson
This study identifies altered purinergic signaling and CD8+ T cell dysregulation in STAT3 GOF syndrome, showing partial normalization with JAK inhibitors.
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.
Robin Wijngaard, Caspar I. van der Made, Sema Kalkan Uçar…·Sergio Guerrero‐Castillo
The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.