Author
University of MinnesotaORCID 0000-0002-9826-1860Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Ana M. Breit, Rafaela S. C. Takeshita, Erin E. Ehmke…·Christopher D. Faulk
The paper presents a telomere-to-telomere genome assembly of the fat-tailed dwarf lemur, providing a high-quality genomic resource for studying hibernation and conservation.
Nina B. Gold, Britt A. Johnson, Harini Somanchi…·Robert C. Green
The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.
Maxwell Henry Bannister, Sarah Bray, Anjali Aggarwal…·Hai Dang Nguyen
This study identifies a novel ADPRS variant causing ARH3 dysfunction in children with neurodegeneration and respiratory failure, linking it to protein instability and mislocalization.
D. Liu, Charles John Billington, N. Raja…·Beth A. Kozel
The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.