Stephanie E Wallace

Nosocomial Bloodstream Infections in United States Hospitals: A Three‐Year Analysis

Michael B. Edmond, Stephanie E Wallace, Donna K. McClish et al. · Clinical Infectious Diseases · 1999 · 1.4K citations

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 · 239 citations · Full text

Recurrent 200-Kb Deletions, Developmental Biology, Sh2b1 Gene +11

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 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +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 · 130 citations · Full text

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

Julie Gauthier, Inge A. Meijer, Davor Lessel et al. · Annals of Neurology · 2018 · 128 citations · Full text