Publications by authors named "Richard Trembath"

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SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease.
Cara Morgan, Laura Southgate, Alistair Calder, Thivya Sekar, Andrew Constantine, Richard Trembath

Int J Cardiol· December 2025

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Evolving paradigms in pulmonary hypertension: Highlights of the 6 French Pulmonary Hypertension Network Meeting.
Athénaïs Boucly, Antoine Beauvais, Thomas Lacoste-Palasset, Mitja Jevnikar, Marianne Riou, Richard Trembath

Respir Med Res· November 2025

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Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk.
Jessye Maxwell, Brittany L Mitchell, Xinyi Du-Harpur, Luba M Pardo, Willemijn C A M Witkam, Richard C Trembath

medRxiv· September 2025

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Correction to: Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension.
Jason Hong, Lejla Medzikovic, Wasila Sun, Brenda Wong, Grégoire Ruffenach, Richard C Trembath

Circulation· April 2025

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Charis Eng: an appreciation.
William D Foulkes, Shirley V Hodgson, Eamonn R Maher, Joanne Ngeow, Willie Reardon, Richard Trembath

J Med Genet· December 2024

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Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension.
Jason Hong, Lejla Medzikovic, Wasila Sun, Brenda Wong, Grégoire Ruffenach, Richard C Trembath

Circulation· October 2024

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Genetics and precision genomics approaches to pulmonary hypertension.
Eric D Austin, Micheala A Aldred, Mona Alotaibi, Stefan Gräf, William C Nichols, Richard C Trembath

Eur Respir J· October 2024

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Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism.
James Liley, Michael Newnham, Marta Bleda, Katherine Bunclark, William Auger, Richard Trembath

Am J Respir Crit Care Med· June 2024

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Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.
Yi-Yin Tai, Qiujun Yu, Ying Tang, Wei Sun, Neil J Kelly, Richard C Trembath

Sci Transl Med· January 2024

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Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.
Bendik S Winsvold, Aster V E Harder, Caroline Ran, Mona A Chalmer, Maria Carolina Dalmasso, Richard C Trembath

Ann Neurol· October 2023

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Author Correction: The power of genetic diversity in genome-wide association studies of lipids.
Sarah E Graham, Shoa L Clarke, Kuan-Han H Wu, Stavroula Kanoni, Greg J M Zajac, Richard C Trembath

Nature· June 2023

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Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Christina A Eichstaedt, Catharina Belge, Wendy K Chung, Stefan Gräf, Ekkehard Grünig, Richard C Trembath

Eur Respir J· February 2023

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Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension.
Jason Hong, Brenda Wong, Christopher J Rhodes, Zeyneb Kurt, Tae-Hwi Schwantes-An, Richard C Trembath

bioRxiv· January 2023

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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Stavroula Kanoni, Sarah E Graham, Yuxuan Wang, Ida Surakka, Shweta Ramdas, Richard C Trembath

Genome Biol· December 2022

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Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Wei Zhou, Masahiro Kanai, Kuan-Han H Wu, Humaira Rasheed, Kristin Tsuo, Richard C Trembath

Cell Genom· October 2022

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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Shweta Ramdas, Jonathan Judd, Sarah E Graham, Stavroula Kanoni, Yuxuan Wang, Richard C Trembath

Am J Hum Genet· August 2022

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Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.
Qin Qin Huang, Neneh Sallah, Diana Dunca, Bhavi Trivedi, Karen A Hunt, Richard C Trembath

Nat Commun· August 2022

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Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.
Sam Hodgson, Qin Qin Huang, Neneh Sallah, , Chris J Griffiths, Richard C Trembath

PLoS Med· May 2022

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Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.
Mark Toshner, Colin Church, Lars Harbaum, Christopher Rhodes, Sofia S Villar Moreschi, Richard C Trembath

Eur Respir J· March 2022

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The power of genetic diversity in genome-wide association studies of lipids.
Sarah E Graham, Shoa L Clarke, Kuan-Han H Wu, Stavroula Kanoni, Greg J M Zajac, Richard C Trembath

Nature· December 2021

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Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Emer O'Connor, Carmen Fourier, Caroline Ran, Prasanth Sivakumar, Franziska Liesecke, Richard Trembath

Ann Neurol· August 2021

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Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Na Zhu, Emilia M Swietlik, Carrie L Welch, Michael W Pauciulo, Jacob J Hagen, Richard C Trembath

Genome Med· June 2021

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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Na Zhu, Emilia M Swietlik, Carrie L Welch, Michael W Pauciulo, Jacob J Hagen, Richard C Trembath

Genome Med· May 2021

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Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
Eric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, Beryl B Cummings, Nicola Whiffin, Richard C Trembath

Nature· February 2021

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Bayesian Inference Associates Rare Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Emilia M Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Richard C Trembath

Circ Genom Precis Med· December 2020

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