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102 results

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Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Eichstaedt CA, Maldonado-Velez G, Machado RD, Balachandar S, Coulet F, Day K, Dooijes D, Eyries M, Gräf S, Macaya D, Shaukat M, Southgate L, Tenorio-Castano J, Chung WK, Welch CL, Aldred MA. Eichstaedt CA, et al. Among authors: aldred ma. medRxiv [Preprint]. 2024 Nov 26:2024.11.24.24317862. doi: 10.1101/2024.11.24.24317862. medRxiv. 2024. PMID: 39649591 Free PMC article. Preprint.
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. 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.
Genetics and precision genomics approaches to pulmonary hypertension.
Austin ED, Aldred MA, Alotaibi M, Gräf S, Nichols WC, Trembath RC, Chung WK. Austin ED, et al. Among authors: aldred ma. Eur Respir J. 2024 Oct 31;64(4):2401370. doi: 10.1183/13993003.01370-2024. Print 2024 Oct. Eur Respir J. 2024. PMID: 39209481 Free PMC article. Review.
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: aldred ma. bioRxiv [Preprint]. 2023 Jan 16:2023.01.12.523812. doi: 10.1101/2023.01.12.523812. bioRxiv. 2023. PMID: 36712057 Free PMC article. Preprint.
Alterations in Mitochondrial Function in Pulmonary Vascular Diseases.
Farha S, Asosingh K, Hassoun PM, Barnard J, Comhair S, Reichard A, Wanner N, Radeva M, Aldred MA, Beck GJ, Berman-Rosenzweig E, Borlaug BA, Finet JE, Frantz RP, Grunig G, Hemnes AR, Hill N, Horn EM, Jellis C, Leopold JA, Mehra R, Park MM, Rischard FP, Tang WHW, Erzurum SC; PVDOMICS Study Group. Farha S, et al. Among authors: aldred ma. Antioxid Redox Signal. 2024 Dec 10. doi: 10.1089/ars.2024.0557. Online ahead of print. Antioxid Redox Signal. 2024. PMID: 39655485
Single-cell transcriptomics reveal diverging pathobiology and opportunities for precision targeting in scleroderma-associated versus idiopathic pulmonary arterial hypertension.
Tuhy T, Coursen JC, Graves T, Patatanian M, Cherry C, Niedermeyer SE, Khan SL, Rosen DT, Croglio MP, Elnashar M, Kolb TM, Mathai SC, Damico RL, Hassoun PM, Shimoda LA, Suresh K, Aldred MA, Simpson CE. Tuhy T, et al. Among authors: aldred ma. bioRxiv [Preprint]. 2024 Oct 25:2024.10.25.620225. doi: 10.1101/2024.10.25.620225. bioRxiv. 2024. PMID: 39484590 Free PMC article. Preprint.
102 results