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Results by year

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

Year Number of Results
1961 2
1966 1
1967 2
1968 1
1970 2
1972 1
1973 1
1974 3
1976 1
1977 2
1978 3
1980 2
1981 3
1982 6
1983 1
1984 2
1985 2
1986 2
1987 7
1988 4
1989 3
1990 4
1991 3
1993 2
1994 5
1995 6
1996 2
1997 4
1998 5
1999 3
2000 4
2001 13
2002 9
2003 9
2004 14
2005 13
2006 12
2007 14
2008 16
2009 20
2010 20
2011 23
2012 22
2013 32
2014 29
2015 27
2016 36
2017 40
2018 45
2019 36
2020 29
2021 38
2022 34
2023 20
2024 13

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589 results

Results by year

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: worth a. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
How I manage patients with Wiskott Aldrich syndrome.
Rivers E, Worth A, Thrasher AJ, Burns SO. Rivers E, et al. Among authors: worth a. Br J Haematol. 2019 May;185(4):647-655. doi: 10.1111/bjh.15831. Epub 2019 Mar 12. Br J Haematol. 2019. PMID: 30864154 Free PMC article. Review.
The microbiome-derived metabolite TMAO drives immune activation and boosts responses to immune checkpoint blockade in pancreatic cancer.
Mirji G, Worth A, Bhat SA, El Sayed M, Kannan T, Goldman AR, Tang HY, Liu Q, Auslander N, Dang CV, Abdel-Mohsen M, Kossenkov A, Stanger BZ, Shinde RS. Mirji G, et al. Among authors: worth a. Sci Immunol. 2022 Sep 9;7(75):eabn0704. doi: 10.1126/sciimmunol.abn0704. Epub 2022 Sep 9. Sci Immunol. 2022. PMID: 36083892 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. Among authors: worth a. 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.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. Among authors: worth a. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Phage Therapy of Mycobacterium Infections: Compassionate Use of Phages in 20 Patients With Drug-Resistant Mycobacterial Disease.
Dedrick RM, Smith BE, Cristinziano M, Freeman KG, Jacobs-Sera D, Belessis Y, Whitney Brown A, Cohen KA, Davidson RM, van Duin D, Gainey A, Garcia CB, Robert George CR, Haidar G, Ip W, Iredell J, Khatami A, Little JS, Malmivaara K, McMullan BJ, Michalik DE, Moscatelli A, Nick JA, Tupayachi Ortiz MG, Polenakovik HM, Robinson PD, Skurnik M, Solomon DA, Soothill J, Spencer H, Wark P, Worth A, Schooley RT, Benson CA, Hatfull GF. Dedrick RM, et al. Among authors: worth a. Clin Infect Dis. 2023 Jan 6;76(1):103-112. doi: 10.1093/cid/ciac453. Clin Infect Dis. 2023. PMID: 35676823 Free PMC article.
Do oxytocin neurones affect feeding?
Worth AA, Luckman SM. Worth AA, et al. J Neuroendocrinol. 2021 Nov;33(11):e13035. doi: 10.1111/jne.13035. Epub 2021 Sep 8. J Neuroendocrinol. 2021. PMID: 34495565 Review.
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA. Cooray S, et al. Among authors: worth ajj. Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749. eCollection 2023. Front Immunol. 2023. PMID: 37744344 Free PMC article.
Quantitative structure-skin permeability relationships.
Tsakovska I, Pajeva I, Al Sharif M, Alov P, Fioravanzo E, Kovarich S, Worth AP, Richarz AN, Yang C, Mostrag-Szlichtyng A, Cronin MTD. Tsakovska I, et al. Among authors: worth ap. Toxicology. 2017 Jul 15;387:27-42. doi: 10.1016/j.tox.2017.06.008. Epub 2017 Jun 21. Toxicology. 2017. PMID: 28645577 Review.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S. Yakici N, et al. Among authors: worth a. Clin Immunol. 2023 Oct;255:109757. doi: 10.1016/j.clim.2023.109757. Epub 2023 Sep 9. Clin Immunol. 2023. PMID: 37689091 Free PMC article.
589 results