Lisa Emrick

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

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 211 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

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

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas et al. · The American Journal of Human Genetics · 2018 · 163 citations · Full text

Immunogenetics, Genetic Disorder, Genetics +9

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

Ayman W. El‐Hattab, Jean W. Hsu, Lisa Emrick et al. · Molecular Genetics and Metabolism · 2012 · 156 citations · Full text

Translational Medicine, Arginine Supplementation, Melas Syndrome +4