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

Year Number of Results
2005 1
2008 3
2009 2
2010 3
2011 1
2012 3
2013 6
2014 5
2015 6
2016 12
2017 11
2018 11
2019 15
2020 13
2021 13
2022 7
2023 6
2024 3

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106 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.
Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.
Dimopoulos K, Constantine A, Clift P, Condliffe R, Moledina S, Jansen K, Inuzuka R, Veldtman GR, Cua CL, Tay ELW, Opotowsky AR, Giannakoulas G, Alonso-Gonzalez R, Cordina R, Capone G, Namuyonga J, Scott CH, D'Alto M, Gamero FJ, Chicoine B, Gu H, Limsuwan A, Majekodunmi T, Budts W, Coghlan G, Broberg CS; for Down Syndrome International (DSi). Dimopoulos K, et al. Among authors: coghlan g. Circulation. 2023 Jan 31;147(5):425-441. doi: 10.1161/CIRCULATIONAHA.122.059706. Epub 2023 Jan 30. Circulation. 2023. PMID: 36716257 Free PMC article. Review.
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT).
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group. Galiè N, et al. Eur Heart J. 2016 Jan 1;37(1):67-119. doi: 10.1093/eurheartj/ehv317. Epub 2015 Aug 29. Eur Heart J. 2016. PMID: 26320113 Free article. No abstract available.
Pulmonary hypertension due to left heart disease.
Vachiéry JL, Tedford RJ, Rosenkranz S, Palazzini M, Lang I, Guazzi M, Coghlan G, Chazova I, De Marco T. Vachiéry JL, et al. Among authors: coghlan g. Eur Respir J. 2019 Jan 24;53(1):1801897. doi: 10.1183/13993003.01897-2018. Print 2019 Jan. Eur Respir J. 2019. PMID: 30545974 Free PMC article. Review.
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.
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.
Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry.
Hoeper MM, Pausch C, Grünig E, Klose H, Staehler G, Huscher D, Pittrow D, Olsson KM, Vizza CD, Gall H, Benjamin N, Distler O, Opitz C, Gibbs JSR, Delcroix M, Ghofrani HA, Rosenkranz S, Ewert R, Kaemmerer H, Lange TJ, Kabitz HJ, Skowasch D, Skride A, Jureviciene E, Paleviciute E, Miliauskas S, Claussen M, Behr J, Milger K, Halank M, Wilkens H, Wirtz H, Pfeuffer-Jovic E, Harbaum L, Scholtz W, Dumitrescu D, Bruch L, Coghlan G, Neurohr C, Tsangaris I, Gorenflo M, Scelsi L, Vonk-Noordegraaf A, Ulrich S, Held M. Hoeper MM, et al. Among authors: coghlan g. J Heart Lung Transplant. 2020 Dec;39(12):1435-1444. doi: 10.1016/j.healun.2020.09.011. Epub 2020 Sep 30. J Heart Lung Transplant. 2020. PMID: 33082079 Free article.
Echocardiographic assessment of pulmonary hypertension: a guideline protocol from the British Society of Echocardiography.
Augustine DX, Coates-Bradshaw LD, Willis J, Harkness A, Ring L, Grapsa J, Coghlan G, Kaye N, Oxborough D, Robinson S, Sandoval J, Rana BS, Siva A, Nihoyannopoulos P, Howard LS, Fox K, Bhattacharyya S, Sharma V, Steeds RP, Mathew T. Augustine DX, et al. Among authors: coghlan g. Echo Res Pract. 2018 Sep;5(3):G11-G24. doi: 10.1530/ERP-17-0071. Echo Res Pract. 2018. PMID: 30012832 Free PMC article.
Balloon pulmonary angioplasty for chronic thromboembolic pulmonary hypertension: a clinical consensus statement of the ESC working group on pulmonary circulation and right ventricular function.
Lang IM, Andreassen AK, Andersen A, Bouvaist H, Coghlan G, Escribano-Subias P, Jansa P, Kopec G, Kurzyna M, Matsubara H, Meyer BC, Palazzini M, Post MC, Pruszczyk P, Räber L, Roik M, Rosenkranz S, Wiedenroth CB, Redlin-Werle C, Brenot P. Lang IM, et al. Among authors: coghlan g. Eur Heart J. 2023 Aug 1;44(29):2659-2671. doi: 10.1093/eurheartj/ehad413. Eur Heart J. 2023. PMID: 37470202 Free PMC article.
Pulmonary hypertension - the latest updates for physicians.
Virsinskaite R, Karia N, Kotecha T, Schreiber BE, Coghlan JG, Knight DS. Virsinskaite R, et al. Among authors: coghlan jg. Clin Med (Lond). 2023 Sep;23(5):449-454. doi: 10.7861/clinmed.2023-23.5.Cardio4. Clin Med (Lond). 2023. PMID: 37775164 Free PMC article. Review.
106 results