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Page 1
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: welch cl. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Swietlik EM, Greene D, Zhu N, Megy K, Cogliano M, Rajaram S, Pandya D, Tilly T, Lutz KA, Welch CCL, Pauciulo MW, Southgate L, Martin JM, Treacy CM, Penkett CJ, Stephens JC, Bogaard HJ, Church C, Coghlan G, Coleman AW, Condliffe R, Eichstaedt CA, Eyries M, Gall H, Ghio S, Girerd B, Grünig E, Holden S, Howard L, Humbert M, Kiely DG, Kovacs G, Lordan J, Machado RD, Mackenzie Ross RV, McCabe C, Moledina S, Montani D, Olschewski H, Pepke-Zaba J, Price L, Rhodes CJ, Seeger W, Soubrier F, Suntharalingam J, Toshner MR, Vonk Noordegraaf A, Wharton J, Wild JM, Wort SJ, Lawrie A, Wilkins MR, Trembath RC, Shen Y, Chung WK, Swift AJ, Nichols WC, Morrell NW, Gräf S. Swietlik EM, et al. Circ Genom Precis Med. 2020 Dec 15;14(1):e003155. doi: 10.1161/CIRCGEN.120.003155. Online ahead of print. Circ Genom Precis Med. 2020. PMID: 33320693 Free PMC article.
Effects of sleep disturbance on dyspnoea and impaired lung function following hospital admission due to COVID-19 in the UK: a prospective multicentre cohort study.
Jackson C, Stewart ID, Plekhanova T, Cunningham PS, Hazel AL, Al-Sheklly B, Aul R, Bolton CE, Chalder T, Chalmers JD, Chaudhuri N, Docherty AB, Donaldson G, Edwardson CL, Elneima O, Greening NJ, Hanley NA, Harris VC, Harrison EM, Ho LP, Houchen-Wolloff L, Howard LS, Jolley CJ, Jones MG, Leavy OC, Lewis KE, Lone NI, Marks M, McAuley HJC, McNarry MA, Patel BV, Piper-Hanley K, Poinasamy K, Raman B, Richardson M, Rivera-Ortega P, Rowland-Jones SL, Rowlands AV, Saunders RM, Scott JT, Sereno M, Shah AM, Shikotra A, Singapuri A, Stanel SC, Thorpe M, Wootton DG, Yates T, Gisli Jenkins R, Singh SJ, Man WD, Brightling CE, Wain LV, Porter JC, Thompson AAR, Horsley A, Molyneaux PL, Evans RA, Jones SE, Rutter MK, Blaikley JF; PHOSP-COVID Study Collaborative Group. Jackson C, et al. Lancet Respir Med. 2023 Aug;11(8):673-684. doi: 10.1016/S2213-2600(23)00124-8. Epub 2023 Apr 15. Lancet Respir Med. 2023. PMID: 37072018 Free PMC article.
Tumour necrosis factor receptor-75 and risk of COPD exacerbation in the azithromycin trial.
Woodruff PG, Chatila W, Connett JE, Criner GJ, Curtis JL, Dransfield MT, Han MK, Lazarus SC, Marchetti N, Rogers TJ, Scanlon PD, Sin DD, Voelker H, Wendt C, Albert RK; COPD Clinical Research Network. Woodruff PG, et al. Eur Respir J. 2014 Jan;43(1):295-8. doi: 10.1183/09031936.00140613. Epub 2013 Oct 17. Eur Respir J. 2014. PMID: 24136332 Free PMC article. Clinical Trial. No abstract available.
Azithromycin for prevention of exacerbations of COPD.
Albert RK, Connett J, Bailey WC, Casaburi R, Cooper JA Jr, Criner GJ, Curtis JL, Dransfield MT, Han MK, Lazarus SC, Make B, Marchetti N, Martinez FJ, Madinger NE, McEvoy C, Niewoehner DE, Porsasz J, Price CS, Reilly J, Scanlon PD, Sciurba FC, Scharf SM, Washko GR, Woodruff PG, Anthonisen NR; COPD Clinical Research Network. Albert RK, et al. N Engl J Med. 2011 Aug 25;365(8):689-98. doi: 10.1056/NEJMoa1104623. N Engl J Med. 2011. PMID: 21864166 Free PMC article. Clinical Trial.
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
Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery.
Wang BZ, Nash TR, Zhang X, Rao J, Abriola L, Kim Y, Zakharov S, Kim M, Luo LJ, Morsink M, Liu B, Lock RI, Fleischer S, Tamargo MA, Bohnen M, Welch CL, Chung WK, Marx SO, Surovtseva YV, Vunjak-Novakovic G, Fine BM. Wang BZ, et al. Among authors: welch cl. Cell Rep Med. 2023 Mar 21;4(3):100976. doi: 10.1016/j.xcrm.2023.100976. Epub 2023 Mar 14. Cell Rep Med. 2023. PMID: 36921598 Free PMC article.
Molecular Function and Contribution of TBX4 in Development and Disease.
Karolak JA, Welch CL, Mosimann C, Bzdęga K, West JD, Montani D, Eyries M, Mullen MP, Abman SH, Prapa M, Gräf S, Morrell NW, Hemnes AR, Perros F, Hamid R, Logan MPO, Whitsett J, Galambos C, Stankiewicz P, Chung WK, Austin ED. Karolak JA, et al. Among authors: welch cl. Am J Respir Crit Care Med. 2023 Apr 1;207(7):855-864. doi: 10.1164/rccm.202206-1039TR. Am J Respir Crit Care Med. 2023. PMID: 36367783 Free PMC article. Review.
66 results