Author
Duke University
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
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.
Jiadong Lin, Jonas A. Gustafson, Julie Wertz…·Evan E. Eichler
The paper constructs a high-resolution human pangenome structural variant resource, identifies disease-associated SVs, and demonstrates its utility in filtering variants from probands and associating SVs with traits in a large cohort.
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.
Alison Anderson, Piero Perucca, Elena Vianca…·Sameer M. Zuberi
The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.