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 · 2K citations

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +8

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 · 893 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

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 · 624 citations

Genetics, Neurotransmission, Social Sciences +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 · 324 citations

Genetic Disorder, Genetics, Inherited Metabolic Disease +9

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 · 321 citations