Richard C. Trembath

Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Kirk B. Lane, Rajiv D. Machado, Michael W. Pauciulo et al. · Nature Genetics · 2000 · 1.5K citations

Hypertension, Pulmonary Arterial Hypertension, Tgf-β Receptor +11

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

David M. Evans, Chris C. A. Spencer, Jennifer J. Pointon et al. · Nature Genetics · 2011 · 887 citations · Full text

Inflammation, Rheumatology, Disease Susceptibility +11

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Douglas M. Ruderfer, Stephan Ripke, Andrew McQuillin et al. · Cell · 2018 · 797 citations · Full text

Psychiatry, Psychotic Disorder, Genetics +7

Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

Elaine Soon, Alan Holmes, Carmen Treacy et al. · Circulation · 2010 · 789 citations

Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

Richard C. Trembath, Jennifer R. Thomson, Rajiv D. Machado et al. · New England Journal of Medicine · 2001 · 719 citations · Full text