Jennifer A. Sullivan

Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial

Andrea Amalfitano, A. Resai Bengur, Richard P. Morse et al. · Genetics in Medicine · 2001 · 346 citations · Full text

Translational Medicine, Biochemistry, Inherited Metabolic Disease +5

Public Knowledge of and Attitudes Toward Genetics and Genetic Testing

Susanne B. Haga, William T. Barry, Rachel Mills et al. · Genetic Testing and Molecular Biomarkers · 2013 · 263 citations · Full text

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Luis M. Franco, Venkat Krishnamurthy, Deeksha Bali et al. · Journal of Inherited Metabolic Disease · 2004 · 214 citations

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

Disease Diagnosis, Network Science, Health Informatics +12