Elizabeth A. Normand

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Elizabeth A. Normand, Alicia Braxton, Salma Nassef et al. · Genome Medicine · 2018 · 164 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

Amy M. Breman, Jennifer Chow, Lance U’Ren et al. · Prenatal Diagnosis · 2016 · 116 citations · Full text

Medicine, Genetics, Obstetrics +17

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

Steen Kølvraa, Ripudaman Singh, Elizabeth A. Normand et al. · Prenatal Diagnosis · 2016 · 106 citations

Life Sciences, Genetics, Molecular Genetics +17

Temporal and Mosaic Tsc1 Deletion in the Developing Thalamus Disrupts Thalamocortical Circuitry, Neural Function, and Behavior

Elizabeth A. Normand, Shane R. Crandall, Catherine A. Thorn et al. · Neuron · 2013 · 69 citations · Full text

Life Sciences, Genetics, Neuroscience +16