Tara H. Stamper

Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

Zöe Powis, Kelly D. Farwell Hagman, Cameron Mroske et al. · Clinical Genetics · 2017 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study

Trisha Brown, Mark A. Kliewer, B S Hertzberg et al. · Prenatal Diagnosis · 1999 · 18 citations

Medicine, Maternal Health, Obstetrics +17

Bi‐allelic <i>KARS1</i> pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini et al. · Human Mutation · 2021 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of <i>CDH23</i>

Sara V. Branson, Jedediah McClintic, Tara H. Stamper et al. · Ophthalmic surgery, lasers & imaging retina · 2016 · 13 citations

Life Sciences, Genetics, Molecular Genetics +14

A further case of choanal atresia in the deletion (9p) syndrome

Vandana Shashi, David D. Berry, Tara H. Stamper et al. · American Journal of Medical Genetics · 1998 · 12 citations

Life Sciences, Pathology, Surgery +6