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

Year Number of Results
1937 1
1939 1
1940 1
1958 1
1966 1
1967 3
1968 2
1969 1
1972 1
1977 2
1978 1
1982 2
1983 2
1984 1
1985 1
1986 1
1987 1
1988 6
1989 7
1990 3
1991 1
1992 7
1993 2
1995 5
1996 3
1997 6
1998 4
1999 2
2000 6
2001 8
2002 6
2003 7
2004 3
2005 7
2006 8
2007 11
2008 8
2009 7
2010 8
2011 15
2012 23
2013 12
2014 13
2015 15
2016 13
2017 19
2018 27
2019 18
2020 21
2021 33
2022 26
2023 20
2024 17
2025 29
2026 1

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412 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.
Sotatercept for the Treatment of Pulmonary Arterial Hypertension.
Humbert M, McLaughlin V, Gibbs JSR, Gomberg-Maitland M, Hoeper MM, Preston IR, Souza R, Waxman A, Escribano Subias P, Feldman J, Meyer G, Montani D, Olsson KM, Manimaran S, Barnes J, Linde PG, de Oliveira Pena J, Badesch DB; PULSAR Trial Investigators. Humbert M, et al. N Engl J Med. 2021 Apr 1;384(13):1204-1215. doi: 10.1056/NEJMoa2024277. N Engl J Med. 2021. PMID: 33789009 Clinical Trial.
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.
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: church c. Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4. Nat Commun. 2018. PMID: 29650961 Free PMC article.
Overview of therapeutic ultrasound applications and safety considerations.
Miller DL, Smith NB, Bailey MR, Czarnota GJ, Hynynen K, Makin IR; Bioeffects Committee of the American Institute of Ultrasound in Medicine. Miller DL, et al. J Ultrasound Med. 2012 Apr;31(4):623-34. doi: 10.7863/jum.2012.31.4.623. J Ultrasound Med. 2012. PMID: 22441920 Free PMC article. Review.
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.
Brown and beige adipose tissue regulate systemic metabolism through a metabolite interorgan signaling axis.
Whitehead A, Krause FN, Moran A, MacCannell ADV, Scragg JL, McNally BD, Boateng E, Murfitt SA, Virtue S, Wright J, Garnham J, Davies GR, Dodgson J, Schneider JE, Murray AJ, Church C, Vidal-Puig A, Witte KK, Griffin JL, Roberts LD. Whitehead A, et al. Among authors: church c. Nat Commun. 2021 Mar 26;12(1):1905. doi: 10.1038/s41467-021-22272-3. Nat Commun. 2021. PMID: 33772024 Free PMC article.
Acquired cancer resistance to combination immunotherapy from transcriptional loss of class I HLA.
Paulson KG, Voillet V, McAfee MS, Hunter DS, Wagener FD, Perdicchio M, Valente WJ, Koelle SJ, Church CD, Vandeven N, Thomas H, Colunga AG, Iyer JG, Yee C, Kulikauskas R, Koelle DM, Pierce RH, Bielas JH, Greenberg PD, Bhatia S, Gottardo R, Nghiem P, Chapuis AG. Paulson KG, et al. Among authors: church cd. Nat Commun. 2018 Sep 24;9(1):3868. doi: 10.1038/s41467-018-06300-3. Nat Commun. 2018. PMID: 30250229 Free PMC article.
Sotatercept for Pulmonary Arterial Hypertension within the First Year after Diagnosis.
McLaughlin VV, Hoeper MM, Badesch DB, Ghofrani HA, Gibbs JSR, Gomberg-Maitland M, Preston IR, Souza R, Waxman AB, Kopeć G, Meyer G, Olsson KM, Fu W, Shi Y, Miller B, Kim SS, Mackenzie HS, Brambatti M, Patel MJ, Koglin J, Cornell AG, Humbert M; HYPERION Trial Investigators. McLaughlin VV, et al. N Engl J Med. 2025 Oct 23;393(16):1599-1611. doi: 10.1056/NEJMoa2508170. Epub 2025 Sep 30. N Engl J Med. 2025. PMID: 41025556 Clinical Trial.
Perioperative management of patients with pulmonary hypertension undergoing non-cardiothoracic, non-obstetric surgery: a systematic review and expert consensus statement.
Price LC, Martinez G, Brame A, Pickworth T, Samaranayake C, Alexander D, Garfield B, Aw TC, McCabe C, Mukherjee B, Harries C, Kempny A, Gatzoulis M, Marino P, Kiely DG, Condliffe R, Howard L, Davies R, Coghlan G, Schreiber BE, Lordan J, Taboada D, Gaine S, Johnson M, Church C, Kemp SV, Wong D, Curry A, Levett D, Price S, Ledot S, Reed A, Dimopoulos K, Wort SJ. Price LC, et al. Among authors: church c. Br J Anaesth. 2021 Apr;126(4):774-790. doi: 10.1016/j.bja.2021.01.005. Epub 2021 Feb 19. Br J Anaesth. 2021. PMID: 33612249 Free article.
412 results