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Rajiv Machado
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Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
KB Lane, RD Machado, MW Pauciulo, JR Thomson, JA Phillips, JE Loyd, ...
Nature genetics 26 (1), 81-84, 2000
16322000
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
KB Lane, RD Machado, MW Pauciulo, JR Thomson, JA Phillips, JE Loyd, ...
Nature genetics 26 (1), 81-84, 2000
16322000
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
8992001
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
8672000
Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension
E Soon, AM Holmes, CM Treacy, NJ Doughty, L Southgate, RD Machado, ...
Circulation 122 (9), 920-927, 2010
7922010
Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor
C Atkinson, S Stewart, PD Upton, R Machado, JR Thomson, RC Trembath, ...
Circulation 105 (14), 1672-1678, 2002
7832002
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
RD Machado, MW Pauciulo, JR Thomson, KB Lane, NV Morgan, ...
The American Journal of Human Genetics 68 (1), 92-102, 2001
6542001
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
5252006
Genetics and genomics of pulmonary arterial hypertension
RD Machado, O Eickelberg, CG Elliott, MW Geraci, M Hanaoka, JE Loyd, ...
Journal of the American College of Cardiology 54 (1_Supplement_S), S32-S42, 2009
5142009
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
4722015
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
RE Harrison, JA Flanagan, M Sankelo, SA Abdalla, J Rowell, ...
Journal of medical genetics 40 (12), 865-871, 2003
4402003
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
4262013
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
4092017
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
S Gräf, M Haimel, M Bleda, C Hadinnapola, L Southgate, W Li, J Hodgson, ...
Nature communications 9 (1), 1416, 2018
3412018
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension
N Rudarakanchana, JA Flanagan, H Chen, PD Upton, R Machado, ...
Human molecular genetics 11 (13), 1517-1525, 2002
3232002
Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary …
E Grünig, S Weissmann, N Ehlken, A Fijalkowska, C Fischer, T Fourme, ...
Circulation 119 (13), 1747-1757, 2009
2522009
Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects
RD Machado, L Southgate, CA Eichstaedt, MA Aldred, ED Austin, ...
Human mutation 36 (12), 1113-1127, 2015
2402015
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
MT Nasim, T Ogo, M Ahmed, R Randall, HM Chowdhury, KM Snape, ...
Human mutation 32 (12), 1385-1389, 2011
2222011
Molecular genetic framework underlying pulmonary arterial hypertension
L Southgate, RD Machado, S Gräf, NW Morrell
Nature Reviews Cardiology 17 (2), 85-95, 2020
2142020
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
2112006
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