Charles E. Jackson

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

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

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 989 citations · Full text

Molecular Physiology, Skeletal Muscle, Genetics +2

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

John D. Carpten, Christiane M. Robbins, Andrea Villablanca et al. · Nature Genetics · 2002 · 742 citations

Parathyroid Hormone, Parathyroid Disease, Pathology +2

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Lois M. Mulligan, Charis Eng, Catherine S. Healey et al. · Nature Genetics · 1994 · 651 citations

Genetic Disorder, Medicine, Genetics +8