Alan E. Guttmacher

A vision for the future of genomics research

Francis S. Collins, Eric D. Green, Alan E. Guttmacher et al. · Nature · 2003 · 1.7K citations · Full text

Functional Genomics, Next-generation Sequencing, Genetics +8

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini et al. · American Journal of Medical Genetics · 2000 · 1.7K citations

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Kimberly A. McAllister, K.M. Grogg, David W. Johnson et al. · Nature Genetics · 1994 · 1.5K citations · Full text

Endothelial Cell Pathobiology, Vascular Disease, Developmental Biology +10

Replicating genotype–phenotype associations

Stephen J. Chanock, Teri A. Manolio, Michael Boehnke et al. · Nature · 2007 · 1.3K citations · Full text

Genome-wide Association Study, Genotype–phenotype Associations, Linkage Disequilibrium +9

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

David W. Johnson, Jonathan Berg, Melanie A. Baldwin et al. · Nature Genetics · 1996 · 1.1K citations

Activin Receptor–like, Developmental Biology, Signal Transduction +7