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Page 1
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW. Gräf S, et al. Among authors: moledina s. Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4. Nat Commun. 2018. PMID: 29650961 Free PMC article.
Noninvasive pulmonary artery wave intensity analysis in pulmonary hypertension.
Quail MA, Knight DS, Steeden JA, Taelman L, Moledina S, Taylor AM, Segers P, Coghlan GJ, Muthurangu V. Quail MA, et al. Among authors: moledina s. Am J Physiol Heart Circ Physiol. 2015 Jun 15;308(12):H1603-11. doi: 10.1152/ajpheart.00480.2014. Epub 2015 Feb 6. Am J Physiol Heart Circ Physiol. 2015. PMID: 25659483 Free PMC article.
Dynamic Risk Stratification of Patient Long-Term Outcome After Pulmonary Endarterectomy: Results From the United Kingdom National Cohort.
Cannon JE, Su L, Kiely DG, Page K, Toshner M, Swietlik E, Treacy C, Ponnaberanam A, Condliffe R, Sheares K, Taboada D, Dunning J, Tsui S, Ng C, Gopalan D, Screaton N, Elliot C, Gibbs S, Howard L, Corris P, Lordan J, Johnson M, Peacock A, MacKenzie-Ross R, Schreiber B, Coghlan G, Dimopoulos K, Wort SJ, Gaine S, Moledina S, Jenkins DP, Pepke-Zaba J. Cannon JE, et al. Among authors: moledina s. Circulation. 2016 May 3;133(18):1761-71. doi: 10.1161/CIRCULATIONAHA.115.019470. Epub 2016 Apr 6. Circulation. 2016. PMID: 27052413 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Among authors: moledina s. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, Arora A, Knight J, Hanscombe KB, Karnes JH, Kaakinen M, Gall H, Ulrich A, Harbaum L, Cebola I, Ferrer J, Lutz K, Swietlik EM, Ahmad F, Amouyel P, Archer SL, Argula R, Austin ED, Badesch D, Bakshi S, Barnett C, Benza R, Bhatt N, Bogaard HJ, Burger CD, Chakinala M, Church C, Coghlan JG, Condliffe R, Corris PA, Danesino C, Debette S, Elliott CG, Elwing J, Eyries M, Fortin T, Franke A, Frantz RP, Frost A, Garcia JGN, Ghio S, Ghofrani HA, Gibbs JSR, Harley J, He H, Hill NS, Hirsch R, Houweling AC, Howard LS, Ivy D, Kiely DG, Klinger J, Kovacs G, Lahm T, Laudes M, Machado RD, MacKenzie Ross RV, Marsolo K, Martin LJ, Moledina S, Montani D, Nathan SD, Newnham M, Olschewski A, Olschewski H, Oudiz RJ, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Rehman Z, Robbins I, Roden DM, Rosenzweig EB, Saydain G, Scelsi L, Schilz R, Seeger W, Shaffer CM, Simms RW, Simon M, Sitbon O, Suntharalingam J, Tang H, Tchourbanov AY, Thenappan T, Torres F, Toshner MR, Treacy CM, Vonk Noordegraaf A, Waisfisz Q, Walsworth AK, Walter RE, Wharton J, White RJ, Wilt J, Wort SJ, Yung D, Lawrie A, Humbert M, Sou… See abstract for full author list ➔ Rhodes CJ, et al. Among authors: moledina s. Lancet Respir Med. 2019 Mar;7(3):227-238. doi: 10.1016/S2213-2600(18)30409-0. Epub 2018 Dec 5. Lancet Respir Med. 2019. PMID: 30527956 Free PMC article.
EXPRESS: Statement on imaging and pulmonary hypertension from the Pulmonary Vascular Research Institute (PVRI).
Kiely DG, Levin D, Hassoun P, Ivy DD, Jone PN, Bwika J, Kawut SM, Lordan J, Lungu A, Mazurek J, Moledina S, Olschewski H, Peacock A, Puri GD, Rahaghi F, Schafer M, Schiebler M, Screaton N, Tawhai M, Van Beek EJ, Vonk-Noordegraaf A, Vanderpool RR, Wort J, Zhao L, Wild J, Vogel-Claussen J, Swift AJ. Kiely DG, et al. Among authors: moledina s. Pulm Circ. 2019 Mar 18;9(3):2045894019841990. doi: 10.1177/2045894019841990. Online ahead of print. Pulm Circ. 2019. PMID: 30880632 Free PMC article.
Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.
Sofianopoulou E, Kaptoge S, Gräf S, Hadinnapola C, Treacy CM, Church C, Coghlan G, Gibbs JSR, Haimel M, Howard LS, Johnson M, Kiely DG, Lawrie A, Lordan J, MacKenzie Ross RV, Martin JM, Moledina S, Newnham M, Peacock AJ, Price LC, Rhodes CJ, Suntharalingam J, Swietlik EM, Toshner MR, Wharton J, Wilkins MR, Wort SJ, Pepke-Zaba J, Condliffe R, Corris PA, Di Angelantonio E, Provencher S, Morrell NW. Sofianopoulou E, et al. Among authors: moledina s. Eur Respir J. 2019 May 30;53(5):1801429. doi: 10.1183/13993003.01429-2018. Print 2019 May. Eur Respir J. 2019. PMID: 30923185 Free article.
109 results