Stephanie E Wallace
Seattle Children's Hospital(US)University of Calgary(CA)University of Washington(US)University of Minnesota System(US)University of Arkansas for Medical Sciences(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Diverse Scientific and Economic Studies, Genetics, Bioinformatics, and Biomedical Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Nosocomial Bloodstream Infections in United States Hospitals: A Three‐Year Analysis(1999)1,384 cited
- → Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity(2010)241 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
- → Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1(2019)131 cited
- → Recessive mutations in VPS13D cause childhood onset movement disorders(2018)128 cited
- → Development and initial experimental evaluation of a prosthetic aortic valve for transcatheter placement. Work in progress.