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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.
Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Montani D, Quarck R, Tenorio-Castano JA, Soubrier F, Trembath RC, Morrell NW; for PAH-ICON associated with the PVRI. Eichstaedt CA, et al. Among authors: trembath rc. Eur Respir J. 2023 Feb 23;61(2):2201471. doi: 10.1183/13993003.01471-2022. Print 2023 Feb. Eur Respir J. 2023. PMID: 36302552 Free PMC article.
Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2021 Dec 7;12(1):7104. doi: 10.1038/s41467-021-27326-0. Nat Commun. 2021. PMID: 34876579 Free PMC article.
Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2022 Nov 25;13(1):7276. doi: 10.1038/s41467-022-33381-y. Nat Commun. 2022. PMID: 36433938 Free PMC article. No abstract available.
Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension.
Hong J, Wong B, Rhodes CJ, Kurt Z, Schwantes-An TH, Mickler EA, Gräf S, Eyries M, Lutz KA, Pauciulo MW, Trembath RC, Montani D, Morrell NW, Wilkins MR, Nichols WC, Trégouët DA, Aldred MA, Desai AA, Tuder RM, Geraci MW, Eghbali M, Stearman RS, Yang X. Hong J, et al. Among authors: trembath rc. bioRxiv [Preprint]. 2023 Jan 16:2023.01.12.523812. doi: 10.1101/2023.01.12.523812. bioRxiv. 2023. PMID: 36712057 Free PMC article. Preprint.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].
Montani D, Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Humbert M, Quarck R, Tenorio-Castano JA, Soubrier F, Trembath RC, Morrell NW; PAH-ICON associated with the PVRI. Montani D, et al. Among authors: trembath rc. Rev Mal Respir. 2023 Nov-Dec;40(9-10):838-852. doi: 10.1016/j.rmr.2023.10.004. Epub 2023 Nov 1. Rev Mal Respir. 2023. PMID: 37923650 French.
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism.
Liley J, Newnham M, Bleda M, Bunclark K, Auger W, Barbera JA, Bogaard H, Delcroix M, Fernandes TM, Howard L, Jenkins D, Lang I, Mayer E, Rhodes C, Simpson M, Southgate L, Trembath R, Wharton J, Wilkins MR, Gräf S, Morrell N, Pepke Zaba J, Toshner M. Liley J, et al. Am J Respir Crit Care Med. 2024 Mar 12. doi: 10.1164/rccm.202307-1236OC. Online ahead of print. Am J Respir Crit Care Med. 2024. PMID: 38470220
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension.
Tai YY, Yu Q, Tang Y, Sun W, Kelly NJ, Okawa S, Zhao J, Schwantes-An TH, Lacoux C, Torrino S, Al Aaraj Y, El Khoury W, Negi V, Liu M, Corey CG, Belmonte F, Vargas SO, Schwartz B, Bhat B, Chau BN, Karnes JH, Satoh T, Barndt RJ, Wu H, Parikh VN, Wang J, Zhang Y, McNamara D, Li G, Speyer G, Wang B, Shiva S, Kaufman B, Kim S, Gomez D, Mari B, Cho MH, Boueiz A, Pauciulo MW, Southgate L, Trembath RC, Sitbon O, Humbert M, Graf S, Morrell NW, Rhodes CJ, Wilkins MR, Nouraie M, Nichols WC, Desai AA, Bertero T, Chan SY. Tai YY, et al. Among authors: trembath rc. Sci Transl Med. 2024 Jan 10;16(729):eadd2029. doi: 10.1126/scitranslmed.add2029. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198571 Free PMC article.
PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.
Burley K, Fitzgibbon L, van Heel D; Genes & Health Research Team@EastLondonGenes; Vuckovic D, Mumford AD; Genes & Health Research Team. Burley K, et al. Res Pract Thromb Haemost. 2023 May 14;7(4):100175. doi: 10.1016/j.rpth.2023.100175. eCollection 2023 May. Res Pract Thromb Haemost. 2023. PMID: 37538507 Free PMC article.
315 results