Erik G. Puffenberger

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +10

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Erik G. Puffenberger, Kiminori Hosoda, Sarah S. Washington et al. · Cell · 1994 · 895 citations

Life Sciences, Genetics, Molecular Genetics +11

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman et al. · New England Journal of Medicine · 2006 · 630 citations

Medicine, Neurology, Neuroscience +17

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Victoria Carlton, Baruch Z. Harris, Erik G. Puffenberger et al. · Nature Genetics · 2003 · 326 citations

Life Sciences, Genetics, Molecular Genetics +8

Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

D. Holmes Morton, Kevin A. Strauss, Erik G. Puffenberger et al. · PEDIATRICS · 2002 · 324 citations

Agriculture, Nutrition, Nutritional Sciences +17