Gregory M. Enns

Clinical Interpretation and Implications of Whole-Genome Sequencing

Frederick E. Dewey, Megan E. Grove, Cuiping Pan et al. · JAMA · 2014 · 459 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

Gregory M. Enns, Susan A. Berry, Gerard T. Berry et al. · New England Journal of Medicine · 2007 · 355 citations · Full text

Life Sciences, Pharmacotherapy, Renal Pharmacotherapy +3

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Natalia Gomez‐Ospina, Carol Potter, Rui Xiao et al. · Nature Communications · 2016 · 296 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 244 citations · Full text

Life Sciences, Biochemistry, Enzymology +15

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge et al. · Genetics in Medicine · 2014 · 240 citations · Full text

Life Sciences, Genetics, Molecular Biology +8