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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 4
2004 3
2005 5
2006 5
2007 4
2008 10
2009 11
2010 12
2011 10
2012 12
2013 14
2014 16
2015 11
2016 15
2017 12
2018 20
2019 11
2020 26
2021 29
2022 26
2023 20
2024 21
2025 18
2026 14

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282 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
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 Free PMC article.
[No title available]
Ghio S, Raimondi Cominesi I. Ghio S, et al. Rev Esp Cardiol. 2009 Aug;62(8):843-6. doi: 10.1016/S0300-8932(09)72065-2. Epub 2009 Sep 9. Rev Esp Cardiol. 2009. PMID: 23040377 Free article. English, Spanish. No abstract available.
Hemodynamics and Phosphodiesterase-5 Inhibitor Treatment Associated with Survival in Pulmonary Hypertension in Interstitial Lung Disease: A PVRI GoDeep Meta-Registry Analysis.
Yogeswaran A, Hassoun PM, Saleh K, Fünderich M, Balasubramanian A, Konswa Z, Kiely DG, Lawrie A, Thenappan T, Eichstaedt CA, Grünig E, Wilkins MR, Howard L, Olschewski H, Kovacs G, Cajigas HR, Frantz R, Sabbour H, Sweatt AJ, Zamanian RT, Arvanitaki A, Giannakoulas G, Elwing J, Jose A, Beckmann S, Olsson KM, Stadler S, Held M, Halank M, Ewert R, Behr J, Milger-Kneidinger K, Pausch C, Pittrow D, Majeed RW, Wilhelm J, Ghofrani HA, Grimminger F, Tello K, Hoeper MM, Seeger W; PVRI-GoDeep-Consortium. Yogeswaran A, et al. Am J Respir Crit Care Med. 2025 Oct;211(10):1855-1866. doi: 10.1164/rccm.202412-2371OC. Am J Respir Crit Care Med. 2025. PMID: 40772955
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: ghio 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.
Exercise Stress Echocardiography of the Right Ventricle and Pulmonary Circulation.
Gargani L, Pugliese NR, De Biase N, Mazzola M, Agoston G, Arcopinto M, Argiento P, Armstrong WF, Bandera F, Cademartiri F, Carbone A, Castaldo R, Citro R, Cocchia R, Codullo V, D'Alto M, D'Andrea A, Douschan P, Fabiani I, Ferrara F, Franzese M, Frumento P, Ghio S, Grünig E, Guazzi M, Kasprzak JD, Kolias T, Kovacs G, La Gerche A, Limogelli G, Marra AM, Matucci-Cerinic M, Mauro C, Moreo A, Pratali L, Ranieri B, Rega S, Rudski L, Saggar R, Salzano A, Serra W, Stanziola AA, Vannan MA, Voilliot D, Vriz O, Wierzbowska-Drabik K, Cittadini A, Naeije R, Bossone E; RIGHT Heart International NETwork (RIGHT-NET) Investigators. Gargani L, et al. Among authors: ghio s. J Am Coll Cardiol. 2023 Nov 21;82(21):1973-1985. doi: 10.1016/j.jacc.2023.09.807. J Am Coll Cardiol. 2023. PMID: 37968015 Free article.
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.
Contemporary medical therapy for heart failure across the ejection fraction spectrum: The OPTIPHARM-HF registry.
Inciardi RM, Volterrani M, Savarese G, Vaduganathan M, Oriecuia C, Lombardi CM, Gussago C, Agostoni P, Ameri P, Armentaro G, Arzilli C, Aspromonte N, Attanasio A, Badagliacca R, Barbieri L, Bocchino PP, Bursi F, Cameli M, Canonero M, Campodonico JS, Capovilla T, Carluccio E, Carugo S, Castiglione V, Catapano D, Cipriani M, Correale M, D'Amario D, De Caterina R, De Ferrari GM, D'Elia E, Di Odoardo L, Emdin M, Falco L, Ferrante G, Fornaro A, Fornaro P, Guastamiglio G, Guazzi M, Iacoviello M, Imazio M, Incaminato E, La Rovere MT, Leonardi S, Maccallini M, Mandoli GE, Masarone D, Masetti M, Mazzoni A, Mazzotta M, Merlo M, Moschini L, Novarese F, Palazzuoli A, Pastore MC, Patti G, Pedretti RFE, Pidello S, Piepoli MF, Pinto G, Potena L, Raineri C, Rubbo FM, Sabatino M, Salzano A, Sciacqua A, Senni M, Severino P, Sinagra G, Sposato B, Taddei S, Valleggi A, Vignati C, Vizza D, Specchia C, Rosano G, Metra M; OPTIPHARM‐HF investigators. Inciardi RM, et al. Eur J Heart Fail. 2025 Dec;27(12):2691-2704. doi: 10.1002/ejhf.70074. Epub 2025 Dec 17. Eur J Heart Fail. 2025. PMID: 41408894 Free PMC article.
TAPSE/sPAP Ratio to Improve Risk Assessment in Pulmonary Arterial Hypertension.
Badagliacca R, Tello K, D'Alto M, Ghio S, Argiento P, Brunetti ND, Casamassima V, Casu G, Cedrone N, Confalonieri M, Corda M, Correale M, D'Agostino C, De Michele L, Filomena D, Galgano G, Greco A, Lombardi CM, Madonna R, Manzi G, Mercurio V, Mihai A, Mulè M, Paciocco G, Papa S, Rako ZA, Recchioni T, Richter M, Romaniello A, Romeo E, Scelsi L, Stolfo D, Vitulo P, Yogeswaran A, Naeije R, Benza RL, Vizza CD; Italian Pulmonary Hypertension Network (iPHNET) and the Giessen PH Registry. Badagliacca R, et al. Among authors: ghio s. Circ Heart Fail. 2025 Nov;18(11):e012518. doi: 10.1161/CIRCHEARTFAILURE.124.012518. Epub 2025 Sep 17. Circ Heart Fail. 2025. PMID: 40959873
282 results