Deborah Copenheaver

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Carin Yates, Kristin G. Monaghan, Deborah Copenheaver et al. · Genetics in Medicine · 2017 · 175 citations · Full text

Developmental Anomaly, Ultrasound Anomalies, Developmental Biology +12

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden et al. · Genetics in Medicine · 2019 · 118 citations · Full text

Phenotype-driven Selection, Newborn Screening, Sequencing +13

Bohring‐Opitz syndrome caused by an <i>ASXL1</i> mutation inherited from a germline mosaic mother

Emma Bedoukian, Deborah Copenheaver, Sherri J. Bale et al. · American Journal of Medical Genetics Part A · 2018 · 22 citations

Genetics, Genetic Epidemiology, Pathology +19

Clinical utility of exome sequencing in infantile heart failure

Alyssa Ritter, Emma Bedoukian, Justin H. Berger et al. · Genetics in Medicine · 2019 · 20 citations · Full text

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Tara Wenger, Abbey Scott, Lukas Kruidenier et al. · The American Journal of Human Genetics · 2025 · 14 citations · Full text