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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +8

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

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

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

John D. Carpten, Christiane M. Robbins, Andrea Villablanca et al. · Nature Genetics · 2002 · 749 citations

Medicine, Endocrinology, Molecular Genetics +11

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

Life Sciences, Genetics, Molecular Genetics +16