Sara Copeland

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

Oleg A. Shchelochkov, Fangyuan Li, Michael T. Geraghty et al. · Molecular Genetics and Metabolism · 2009 · 60 citations

Life Sciences, Genetics, Molecular Genetics +13

Neonatal Vitamin B12 Deficiency Secondary to Maternal Subclinical Pernicious Anemia: Identification by Expanded Newborn Screening

Michael Marble, Sara Copeland, Nashat Khanfar et al. · The Journal of Pediatrics · 2008 · 54 citations

Public Health, Maternal Health, Pediatrics +15

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Jaffar Alfardan, Al‐Walid Mohsen, Sara Copeland et al. · Molecular Genetics and Metabolism · 2010 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Evaluation of a Novel Electronic Genetic Screening and Clinical Decision Support Tool in Prenatal Clinical Settings

Emily Edelman, Bruce K. Lin, Teresa Doksum et al. · Maternal and Child Health Journal · 2013 · 28 citations

Medicine, Genetics, Health Informatics +16

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

Marci K. Sontag, Deboshree Sarkar, Anne Marie Comeau et al. · International Journal of Neonatal Screening · 2018 · 26 citations · Full text

Medicine, Pediatrics, Public Health Practice +14