Author
Nationwide Children's HospitalORCID 0000-0001-8109-8502Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Emma K. Wiener, Rocío Rius, Carlos A Dominguez Gonzalez…·Adeline L. Vanderver
The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.
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.
Yasemin Sezgin, Genesis Snyder, Noushin Saljoughian…·Meisam Naeimi Kararoudi
REMEDY enables efficient repair of heterozygous mutations in human and mouse cells without exogenous donor DNA by using CRISPR-induced DSBs and HDR enhancers.
Hongchuan Li, Md Ahasanur Rahman, Michael Ruesch…·Stephen K. Anderson
The paper identifies binary promoter switches in lineage-determining transcription factors, showing mutually exclusive sense/antisense transcription and distinct gene expression patterns in different cell states.