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Page 1
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. Among authors: aldred ma. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Among authors: aldred ma. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9. Am J Hum Genet. 2023. PMID: 37816352 Free PMC article.
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME, Patel D, Bielowka A, Zhu J, Jain K, Mackay IS, Chaves Guererro P, Emanuelli G, Jovine L, Noseda M, Marciniak SJ, Aldred MA, Shovlin CL. Bernabéu-Herrero ME, et al. Among authors: aldred ma. Blood. 2024 Mar 8:blood.2023021777. doi: 10.1182/blood.2023021777. Online ahead of print. Blood. 2024. PMID: 38457357 Free article.
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia.
Shovlin CL, Patel D, Bielowka A, Ledermann JA, Modarresi A; Genomics England Research Consortium; Bernabeu-Herrero ME, Aldred MA, Alsafi A. Shovlin CL, et al. Among authors: aldred ma. Br J Haematol. 2024 Jan;204(1):361-365. doi: 10.1111/bjh.19167. Epub 2023 Oct 23. Br J Haematol. 2024. PMID: 37872650 No abstract available.
Kynurenine pathway metabolism evolves with development of preclinical and scleroderma-associated pulmonary arterial hypertension.
Simpson CE, Ambade AS, Harlan R, Roux A, Aja S, Graham D, Shah AA, Hummers LK, Hemnes AR, Leopold JA, Horn EM, Berman-Rosenzweig ES, Grunig G, Aldred MA, Barnard J, Comhair SAA, Tang WHW, Griffiths M, Rischard F, Frantz RP, Erzurum SC, Beck GJ, Hill NS, Mathai SC, Hassoun PM, Damico RL; the PVDOMICS Study Group. Simpson CE, et al. Among authors: aldred ma. Am J Physiol Lung Cell Mol Physiol. 2023 Nov 1;325(5):L617-L627. doi: 10.1152/ajplung.00177.2023. Epub 2023 Oct 3. Am J Physiol Lung Cell Mol Physiol. 2023. PMID: 37786941
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.
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.
91 results