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Richard Trembath
Richard Trembath
Verifierad e-postadress på kcl.ac.uk
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Nature 476 (7359), 214-219, 2011
29412011
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
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ...
Nature genetics 44 (12), 1341-1348, 2012
10502012
Genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ...
Nature genetics 42 (11), 985, 2010
10172010
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
Australo-Anglo-American Spondyloarthritis Consortium (TASC), ...
Nature genetics 43 (8), 761-767, 2011
9552011
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
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
International Multiple Sclerosis Genetics Consortium*†, ANZgene, ...
Science 365 (6460), eaav7188, 2019
8372019
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
S Shackleton, DJ Lloyd, SNJ Jackson, R Evans, MF Niermeijer, BM Singh, ...
Nature genetics 24 (2), 153-156, 2000
8262000
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
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7122021
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
D Ellinghaus, L Jostins, SL Spain, A Cortes, J Bethune, B Han, YR Park, ...
Nature genetics 48 (5), 510-518, 2016
7112016
Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis
RC Trembath, R Lee Clough, JL Rosbotham, AB Jones, RDR Camp, ...
Human molecular genetics 6 (5), 813-820, 1997
6981997
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, ...
Human molecular genetics 8 (8), 1461-1472, 1999
6681999
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
SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton
F Haque, DJ Lloyd, DT Smallwood, CL Dent, CM Shanahan, AM Fry, ...
Molecular and cellular biology 26 (10), 3738-3751, 2006
5932006
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
W Reardon, ME Pembrey, RC Trembath, RJM Ross, MG Sweeney, ...
The Lancet 340 (8832), 1376-1379, 1992
5921992
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ...
Nature genetics 38 (7), 752-754, 2006
5742006
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
P Ostergaard, MA Simpson, FC Connell, CG Steward, G Brice, ...
Nature genetics 43 (10), 929-931, 2011
5662011
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Artiklar 1–20