Stephanie E Wallace

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan et al. · Genetics in Medicine · 2010 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recessive mutations in <i>VPS13D</i> cause childhood onset movement disorders

Julie Gauthier, Inge A. Meijer, Davor Lessel et al. · Annals of Neurology · 2018 · 129 citations · Full text

Medicine, Genetics, Neurology +17

Development and initial experimental evaluation of a prosthetic aortic valve for transcatheter placement. Work in progress.

Dušan Pavčnik, K C Wright, Stephanie E Wallace · Radiology · 1992 · 87 citations

Medicine, Cardiology, Surgery +16