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

Life Sciences, Genetics, Molecular Genetics +12

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 · 907 citations · Full text

Life Sciences, Immunology, Molecular Biology +12

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Douglas M. Ruderfer, Stephan Ripke, Andrew McQuillin et al. · Cell · 2018 · 816 citations · Full text

Medicine, Genetics, Psychiatry +17

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

Elaine Soon, Alan Holmes, Carmen Treacy et al. · Circulation · 2010 · 807 citations · Full text

Life Sciences, Cardiology, Immunology +14

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

David Ellinghaus, Luke Jostins, Sarah L. Spain et al. · Nature Genetics · 2016 · 785 citations · Full text

Life Sciences, Bioinformatics, Immunology +10