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
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
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
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
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
E Soon, AM Holmes, CM Treacy, NJ Doughty, L Southgate, RD Machado, ...
Circulation 122 (9), 920-927, 2010
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
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), S32-S42, 2009
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
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 (25 Supplement), D13-D21, 2013
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
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
E Grünig, S Weissmann, N Ehlken, A Fijalkowska, C Fischer, T Fourme, ...
Circulation 119 (13), 1747-1757, 2009
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
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
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
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
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
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), 1-16, 2018
Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial Hypertension
RD Machado, V James, M Southwood, RE Harrison, C Atkinson, ...
Circulation 111 (5), 607-613, 2005
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