Sarah L. Ruppert

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Douglas R. Stewart, Hilde Brems, Alicia Gomes et al. · Genetics in Medicine · 2013 · 50 citations · Full text

Type 1, Molecular Analyses, Neurobiology Of Disease +6

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

Matthew G. Rees, David Ng, Sarah L. Ruppert et al. · Journal of Clinical Investigation · 2011 · 45 citations · Full text

Genetics, Genetic Epidemiology, Genetic Contribution +18

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis

Alexander Pemov, Heejong Sung, Paula L. Hyland et al. · PLoS Genetics · 2014 · 37 citations · Full text

Genetics, Pathology, Disease Gene Identification +16

Observations on intelligence and behavior in 15 patients with Legius syndrome

Ellen Denayer, Mie‐Jef Descheemaeker, Douglas R. Stewart et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · 28 citations · Full text