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Year Number of Results
1985 1
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1990 1
1993 1
1994 3
1995 1
1997 2
1998 2
1999 1
2000 2
2001 4
2002 6
2003 4
2004 3
2005 2
2006 4
2007 2
2008 4
2009 6
2010 2
2011 13
2012 8
2013 14
2014 10
2015 13
2016 19
2017 16
2018 23
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2020 37
2021 42
2022 35
2023 50
2024 57
2025 2

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372 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.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource; Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Downes K, et al. Among authors: gomez k. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192. Blood. 2019. PMID: 31064749 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.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: gomez k. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Simvastatin in Critically Ill Patients with Covid-19.
REMAP-CAP Investigators; Hills TE, Lorenzi E, Berry LR, Shyamsundar M, Al-Beidh F, Annane D, Arabi Y, Aryal D, Au C, Beane A, Bhimani Z, Bonten M, Bradbury CA, Brunkhorst FM, Burrell A, Buxton M, Calfee CS, Cecconi M, Cheng AC, Cove ME, Detry MA, Estcourt LJ, Fitzgerald M, Goligher EC, Goossens H, Green C, Haniffa R, Harrison DA, Hashmi M, Higgins AM, Horvat C, Huang DT, Ichihara N, Jayakumar D, Kruger PS, Lamontagne F, Lampro L, Lawler PR, Marshall JC, Mason AJ, McGlothlin A, McGuinness S, McQuilten ZK, McVerry BJ, Mouncey PR, Murthy S, Neal MD, Nichol AD, O'Kane CM, Parke RL, Parker JC, Rabindrarajan E, Reyes LF, Rowan KM, Saito H, Santos M, Saunders CT, Seymour CW, Shankar-Hari M, Sinha P, Thompson BT, Turgeon AF, Turner AM, van de Veerdonk F, Weis S, Young IS, Zarychanski R, Lewis RJ, McArthur CJ, Angus DC, Berry SM, Derde LPG, Webb SA, Gordon AC, McAuley DF. REMAP-CAP Investigators, et al. N Engl J Med. 2023 Dec 21;389(25):2341-2354. doi: 10.1056/NEJMoa2309995. Epub 2023 Oct 25. N Engl J Med. 2023. PMID: 37888913 Free PMC article. Clinical Trial.
Repurposed Antiviral Drugs for Covid-19 - Interim WHO Solidarity Trial Results.
WHO Solidarity Trial Consortium; Pan H, Peto R, Henao-Restrepo AM, Preziosi MP, Sathiyamoorthy V, Abdool Karim Q, Alejandria MM, Hernández García C, Kieny MP, Malekzadeh R, Murthy S, Reddy KS, Roses Periago M, Abi Hanna P, Ader F, Al-Bader AM, Alhasawi A, Allum E, Alotaibi A, Alvarez-Moreno CA, Appadoo S, Asiri A, Aukrust P, Barratt-Due A, Bellani S, Branca M, Cappel-Porter HBC, Cerrato N, Chow TS, Como N, Eustace J, García PJ, Godbole S, Gotuzzo E, Griskevicius L, Hamra R, Hassan M, Hassany M, Hutton D, Irmansyah I, Jancoriene L, Kirwan J, Kumar S, Lennon P, Lopardo G, Lydon P, Magrini N, Maguire T, Manevska S, Manuel O, McGinty S, Medina MT, Mesa Rubio ML, Miranda-Montoya MC, Nel J, Nunes EP, Perola M, Portolés A, Rasmin MR, Raza A, Rees H, Reges PPS, Rogers CA, Salami K, Salvadori MI, Sinani N, Sterne JAC, Stevanovikj M, Tacconelli E, Tikkinen KAO, Trelle S, Zaid H, Røttingen JA, Swaminathan S. WHO Solidarity Trial Consortium, et al. N Engl J Med. 2021 Feb 11;384(6):497-511. doi: 10.1056/NEJMoa2023184. Epub 2020 Dec 2. N Engl J Med. 2021. PMID: 33264556 Free PMC article. Clinical Trial.
Identification and targeting of a unique NaV1.7 domain driving chronic pain.
Gomez K, Stratton HJ, Duran P, Loya S, Tang C, Calderon-Rivera A, François-Moutal L, Khanna M, Madura CL, Luo S, McKiver B, Choi E, Ran D, Boinon L, Perez-Miller S, Damaj MI, Moutal A, Khanna R. Gomez K, et al. Proc Natl Acad Sci U S A. 2023 Aug 8;120(32):e2217800120. doi: 10.1073/pnas.2217800120. Epub 2023 Jul 27. Proc Natl Acad Sci U S A. 2023. PMID: 37498871 Free PMC article.
Characteristics and outcomes of an international cohort of 600 000 hospitalized patients with COVID-19.
Kartsonaki C, Baillie JK, Barrio NG, Baruch J, Beane A, Blumberg L, Bozza F, Broadley T, Burrell A, Carson G, Citarella BW, Dagens A, Dankwa EA, Donnelly CA, Dunning J, Elotmani L, Escher M, Farshait N, Goffard JC, Gonçalves BP, Hall M, Hashmi M, Sim Lim Heng B, Ho A, Jassat W, Pedrera Jiménez M, Laouenan C, Lissauer S, Martin-Loeches I, Mentré F, Merson L, Morton B, Munblit D, Nekliudov NA, Nichol AD, Singh Oinam BC, Ong D, Panda PK, Petrovic M, Pritchard MG, Ramakrishnan N, Ramos GV, Roger C, Sandulescu O, Semple MG, Sharma P, Sigfrid L, Somers EC, Streinu-Cercel A, Taccone F, Vecham PK, Kumar Tirupakuzhi Vijayaraghavan B, Wei J, Wils EJ, Ci Wong X, Horby P, Rojek A, Olliaro PL; ISARIC Clinical Characterisation Group. Kartsonaki C, et al. Int J Epidemiol. 2023 Apr 19;52(2):355-376. doi: 10.1093/ije/dyad012. Int J Epidemiol. 2023. PMID: 36850054 Free PMC article.
Long-term (180-Day) Outcomes in Critically Ill Patients With COVID-19 in the REMAP-CAP Randomized Clinical Trial.
Writing Committee for the REMAP-CAP Investigators; Higgins AM, Berry LR, Lorenzi E, Murthy S, McQuilten Z, Mouncey PR, Al-Beidh F, Annane D, Arabi YM, Beane A, van Bentum-Puijk W, Bhimani Z, Bonten MJM, Bradbury CA, Brunkhorst FM, Burrell A, Buzgau A, Buxton M, Charles WN, Cove M, Detry MA, Estcourt LJ, Fagbodun EO, Fitzgerald M, Girard TD, Goligher EC, Goossens H, Haniffa R, Hills T, Horvat CM, Huang DT, Ichihara N, Lamontagne F, Marshall JC, McAuley DF, McGlothlin A, McGuinness SP, McVerry BJ, Neal MD, Nichol AD, Parke RL, Parker JC, Parry-Billings K, Peters SEC, Reyes LF, Rowan KM, Saito H, Santos MS, Saunders CT, Serpa-Neto A, Seymour CW, Shankar-Hari M, Stronach LM, Turgeon AF, Turner AM, van de Veerdonk FL, Zarychanski R, Green C, Lewis RJ, Angus DC, McArthur CJ, Berry S, Derde LPG, Gordon AC, Webb SA, Lawler PR. Writing Committee for the REMAP-CAP Investigators, et al. JAMA. 2023 Jan 3;329(1):39-51. doi: 10.1001/jama.2022.23257. JAMA. 2023. PMID: 36525245 Free PMC article.
372 results