Author
University of North Carolina at Chapel HillORCID 0000-0002-4260-5601Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
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.
Thomas Minten, Sarah Bick, Sophia M. Adelson…·Dominique C. Pichard
The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.
Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias
This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.
Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche…·Jonathan S. Berg
The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.