Author
Boston Children's HospitalORCID 0000-0001-5827-8521Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 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.
W. Scott Watkins, Edgar Javier Hernandez, Thomas A. Miller…·Martin Tristani‐Firouzi
This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.
Jennifer L. Cohen, Michael Duyzend, Sophia M. Adelson…·Nina B. Gold
This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.
D. Liu, Carolyn Β. Mervis, Mark David Levin…·Beth A. Kozel
The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.
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.