Insights into the genetic and molecular basis of primary pulmonary hypertensionTREMBATH, Richard C; HARRISON, Rachel.Pediatric research. 2003, Vol 53, Num 6, pp 883-888, issn 0031-3998, 6 p.Article

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathiesLLOYD, David J; TREMBATH, Richard C; SHACKLETON, Sue et al.Human molecular genetics (Print). 2002, Vol 11, Num 7, pp 769-777, issn 0964-6906Article

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertensionALDRED, Micheala A; MACHADO, Rajiv D; JAMES, Victoria et al.American journal of respiratory and critical care medicine. 2007, Vol 176, Num 8, pp 819-824, issn 1073-449X, 6 p.Article

Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesisBIJLMAKERS, Marie-José; KANNEGANTI, Seshu K; BARKER, Jonathan N et al.Human molecular genetics (Print). 2011, Vol 20, Num 16, pp 3129-3137, issn 0964-6906, 9 p.Article

BMP4 inhibits proliferation and promotes myocyte differentiation of lung fibroblasts via Smad1 and JNK pathwaysJEFFERY, Trina K; UPTON, Paul D; TREMBATH, Richard C et al.American journal of physiology. Lung cellular and molecular physiology. 2005, Vol 32, Num 2, pp L370-L378, issn 1040-0605Article

Psoriasis and Other Complex Trait Dermatoses: From Loci to Functional PathwaysCAPON, Francesca; DAVID BURDEN, A; TREMBATH, Richard C et al.Journal of investigative dermatology. 2012, Vol 132, Num 3, pp 915-922, issn 0022-202X, 8 p., 2Article

Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)PINK, Andrew E; SIMPSON, Michael A; DESAI, Nemesha et al.Journal of investigative dermatology. 2012, Vol 132, Num 10, pp 2459-2461, issn 0022-202X, 3 p.Article

BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAHNASIM, Md Talat; OGO, Takeshi; CHOWDHURY, Hasnin M et al.Human molecular genetics (Print). 2012, Vol 21, Num 11, pp 2548-2558, issn 0964-6906, 11 p.Article

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb AnomaliesSOUTHGATE, Laura; MACHADO, Rajiv D; YI HE et al.American journal of human genetics. 2011, Vol 88, Num 5, pp 574-585, issn 0002-9297, 12 p.Article

Genetics and Genomics of Pulmonary Arterial HypertensionMACHADO, Rajiv D; EICKELBERG, Oliver; CHUNG, Wendy K et al.Journal of the American College of Cardiology. 2009, Vol 54, Num 1, issn 0735-1097, S32-S42, SUPArticle

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of hermansky-pudlak syndrome (HPS8)MORGAN, Neil V; PASHA, Shanaz; MAHER, Eamonn R et al.American journal of human genetics. 2006, Vol 78, Num 1, pp 160-166, issn 0002-9297, 7 p.Article

Dysfunctional smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertensionXUDONG YANG; LU LONG; SOUTHWOOD, Mark et al.Circulation research. 2005, Vol 96, Num 10, pp 1053-1063, issn 0009-7330, 11 p.Article

Transforming growth factor-β receptor mutations and pulmonary arterial hypertension in childhoodHARRISON, Rachel E; BERGER, Rolf; HAWORTH, Sheila G et al.Circulation (New York, N.Y.). 2005, Vol 111, Num 4, pp 435-441, issn 0009-7322, 7 p.Article

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsPRASAD, Sai; KÖLLN, Karen A; CUCCI, Robert A et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 1-9, issn 0148-7299, 9 p.Article

Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosisASUMALAHTI, Kati; AMEEN, Mahreen; BURDEN, A. David et al.Journal of investigative dermatology. 2003, Vol 120, Num 4, pp 627-632, issn 0022-202X, 6 p.Article

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeEL GHOUZZI, Vincent; DAGONEAU, Nathalie; TREMBATH, Richard C et al.Human molecular genetics (Print). 2003, Vol 12, Num 3, pp 357-364, issn 0964-6906, 8 p.Article

Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility LociELLINGHAUS, David; ELLINGHAUS, Eva; WEST, Sarah L et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 636-647, issn 0002-9297, 12 p.Article

De Novo Mutations in MLL Cause Wiedemann-Steiner SyndromeJONES, Wendy D; DAFOU, Dimitra; DESHPANDE, Charu et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 358-364, issn 0002-9297, 7 p.Article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucomaTHORLEIFSSON, Gudmar; BRAGI WALTERS, G; STEFANSSON, Hreinn et al.Nature genetics. 2010, Vol 42, Num 10, pp 906-909, issn 1061-4036, 4 p.Article

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishSOUTHGATE, Laura; DAFOU, Dimitra; TALY, Arun B et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 4, pp 379-389, issn 1364-6745, 11 p.Article

The Spectra of Clinical Phenotypes in Aplasia Cutis Congenital and Terminal Transverse Limb DefectsSNAPE, Katie M. G; RUDDY, Deborah; ZENKER, Martin et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 8, pp 1860-1881, issn 1552-4825, 22 p.Article

Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension : potential for rescueSOBOLEWSKI, Anastasia; RUDARAKANCHANA, Nung; UPTON, Paul D et al.Human molecular genetics (Print). 2008, Vol 17, Num 20, pp 3180-3190, issn 0964-6906, 11 p.Article

Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertensionSUNTHARALINGAM, Jay; MACHADO, Rajiv D; CAI, C et al.Thorax. 2007, Vol 62, Num 7, pp 617-622, issn 0040-6376, 6 p.Article

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmusTARPEY, Patrick; THOMAS, Shery; REINECKE, Robert D et al.Nature genetics. 2006, Vol 38, Num 11, pp 1242-1244, issn 1061-4036, 3 p.Article

Genetic association analysis using data from triads and unrelated subjectsEPSTEIN, Michael P; VEAL, Colin D; TREMBATH, Richard C et al.American journal of human genetics. 2005, Vol 76, Num 4, pp 592-608, issn 0002-9297, 17 p.Article