Shawn Fayer

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan‐Birsoy, Jaclyn B. Murry, Kalotina Machini et al. · The American Journal of Human Genetics · 2019 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The BabySeq project: implementing genomic sequencing in newborns

Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan‐Birsoy et al. · BMC Pediatrics · 2018 · 194 citations · Full text

Medicine, Genetics, Pediatrics +17

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

Shawn Fayer, Jennifer N. Dines, Alan F. Rubin et al. · The American Journal of Human Genetics · 2021 · 127 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +16

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

Casie A. Genetti, Talia S. Schwartz, Jill O. Robinson et al. · Genetics in Medicine · 2018 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Monica H. Wojcik, Tian Zhang, Ozge Ceyhan‐Birsoy et al. · Genetics in Medicine · 2021 · 83 citations · Full text

Life Sciences, Genetics, Pediatrics +16