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| Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia RC Trembath, JR Thomson, RD Machado, NV Morgan, C Atkinson, ... New England Journal of Medicine 345 (5), 325-334, 2001 | 902 | 2001 |
| Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family JR Thomson, RD Machado, MW Pauciulo, NV Morgan, M Humbert, ... Journal of medical genetics 37 (10), 741-745, 2000 | 868 | 2000 |
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| Mutations of the TGF‐β type II receptor BMPR2 in pulmonary arterial hypertension RD Machado, MA Aldred, V James, RE Harrison, B Patel, EC Schwalbe, ... Human mutation 27 (2), 121-132, 2006 | 526 | 2006 |
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| Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension L Long, ML Ormiston, X Yang, M Southwood, S Gräf, RD Machado, ... Nature medicine 21 (7), 777-785, 2015 | 476 | 2015 |
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| Genetics and genomics of pulmonary arterial hypertension F Soubrier, WK Chung, R Machado, E Grünig, M Aldred, M Geraci, ... Journal of the American College of Cardiology 62 (25S), D13-D21, 2013 | 426 | 2013 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 411 | 2017 |
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| Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus P Tarpey, S Thomas, N Sarvananthan, U Mallya, S Lisgo, CJ Talbot, ... Nature genetics 38 (11), 1242-1244, 2006 | 212 | 2006 |
| Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension RD Machado, N Rudarakanchana, C Atkinson, JA Flanagan, R Harrison, ... Human molecular genetics 12 (24), 3277-3286, 2003 | 157 | 2003 |
Nicholas MorrellUniversity of CambridgeGeverifieerd e-mailadres voor cam.ac.uk
