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

Year Number of Results
1978 1
1982 1
1983 1
1985 1
1987 1
1988 2
1989 2
1990 1
1991 3
1992 2
1993 2
1994 4
1995 1
1996 2
1997 2
1998 2
1999 6
2000 2
2001 3
2002 3
2003 5
2004 6
2005 12
2006 6
2007 6
2008 5
2009 11
2010 11
2011 6
2012 7
2013 7
2014 9
2015 12
2016 21
2017 29
2018 27
2019 29
2020 38
2021 34
2022 37
2023 35
2024 31
2025 33

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414 results

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Page 1
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.
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group. Lagae L, et al. Among authors: mistry a. Lancet. 2019 Dec 21;394(10216):2243-2254. doi: 10.1016/S0140-6736(19)32500-0. Epub 2019 Dec 17. Lancet. 2019. PMID: 31862249 Clinical Trial.
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.
Nabbout R, Mistry A, Zuberi S, Villeneuve N, Gil-Nagel A, Sanchez-Carpintero R, Stephani U, Laux L, Wirrell E, Knupp K, Chiron C, Farfel G, Galer BS, Morrison G, Lock M, Agarwal A, Auvin S; FAiRE, DS Study Group. Nabbout R, et al. Among authors: mistry a. JAMA Neurol. 2020 Mar 1;77(3):300-308. doi: 10.1001/jamaneurol.2019.4113. JAMA Neurol. 2020. PMID: 31790543 Free PMC article. Clinical Trial.
Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.
Glorieux FH, Langdahl B, Chapurlat R, De Beur SJ, Sutton VR, Poole KES, Dahir KM, Orwoll ES, Willie BM, Mikolajewicz N, Zimmermann E, Hosseinitabatabaei S, Ominsky MS, Saville C, Clancy J, MacKinnon A, Mistry A, Javaid MK. Glorieux FH, et al. Among authors: mistry a. J Bone Miner Res. 2024 Sep 2;39(9):1215-1228. doi: 10.1093/jbmr/zjae112. J Bone Miner Res. 2024. PMID: 39012717 Free PMC article. Clinical Trial.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
PD-L1 Immunohistochemistry Assays for Lung Cancer: Results from Phase 1 of the Blueprint PD-L1 IHC Assay Comparison Project.
Hirsch FR, McElhinny A, Stanforth D, Ranger-Moore J, Jansson M, Kulangara K, Richardson W, Towne P, Hanks D, Vennapusa B, Mistry A, Kalamegham R, Averbuch S, Novotny J, Rubin E, Emancipator K, McCaffery I, Williams JA, Walker J, Longshore J, Tsao MS, Kerr KM. Hirsch FR, et al. Among authors: mistry a. J Thorac Oncol. 2017 Feb;12(2):208-222. doi: 10.1016/j.jtho.2016.11.2228. Epub 2016 Nov 29. J Thorac Oncol. 2017. PMID: 27913228 Free article. Clinical Trial.
Global economic burden of unmet surgical need for appendicitis.
Reuter A, Rogge L, Monahan M, Kachapila M, Morton DG, Davies J, Vollmer S; NIHR Global Surgery Collaboration. Reuter A, et al. Br J Surg. 2022 Sep 9;109(10):995-1003. doi: 10.1093/bjs/znac195. Br J Surg. 2022. PMID: 35881506 Free PMC article.
Desmopressin for patients with spontaneous intracerebral haemorrhage taking antiplatelet drugs (DASH): a UK-based, phase 2, randomised, placebo-controlled, multicentre feasibility trial.
Desborough MJR, Al-Shahi Salman R, Stanworth SJ, Havard D, Woodhouse LJ, Craig J, Krishnan K, Brennan PM, Dineen RA, Coats TJ, Hepburn T, Bath PM, Sprigg N; DASH trial investigators. Desborough MJR, et al. Lancet Neurol. 2023 Jul;22(7):557-567. doi: 10.1016/S1474-4422(23)00157-6. Lancet Neurol. 2023. PMID: 37353276 Free PMC article. Clinical Trial.
Towards fair decentralized benchmarking of healthcare AI algorithms with the Federated Tumor Segmentation (FeTS) challenge.
Zenk M, Baid U, Pati S, Linardos A, Edwards B, Sheller M, Foley P, Aristizabal A, Zimmerer D, Gruzdev A, Martin J, Shinohara RT, Reinke A, Isensee F, Parampottupadam S, Parekh K, Floca R, Kassem H, Baheti B, Thakur S, Chung V, Kushibar K, Lekadir K, Jiang M, Yin Y, Yang H, Liu Q, Chen C, Dou Q, Heng PA, Zhang X, Zhang S, Khan MI, Azeem MA, Jafaritadi M, Alhoniemi E, Kontio E, Khan SA, Mächler L, Ezhov I, Kofler F, Shit S, Paetzold JC, Loehr T, Wiestler B, Peiris H, Pawar K, Zhong S, Chen Z, Hayat M, Egan G, Harandi M, Isik Polat E, Polat G, Kocyigit A, Temizel A, Tuladhar A, Tyagi L, Souza R, Forkert ND, Mouches P, Wilms M, Shambhat V, Maurya A, Danannavar SS, Kalla R, Anand VK, Krishnamurthi G, Nalawade S, Ganesh C, Wagner B, Reddy D, Das Y, Yu FF, Fei B, Madhuranthakam AJ, Maldjian J, Singh G, Ren J, Zhang W, An N, Hu Q, Zhang Y, Zhou Y, Siomos V, Tarroni G, Passerrat-Palmbach J, Rawat A, Zizzo G, Kadhe SR, Epperlein JP, Braghin S, Wang Y, Kanagavelu R, Wei Q, Yang Y, Liu Y, Kotowski K, Adamski S, Machura B, Malara W, Zarudzki L, Nalepa J, Shi Y, Gao H, Avestimehr S, Yan Y, Akbar AS, Kondrateva E, Yang H, Li Z, Wu HY, Roth J, Saueressig C, Milesi A, Nguyen QD, Gruenhagen NJ, Hua… See abstract for full author list ➔ Zenk M, et al. Among authors: mistry a. Nat Commun. 2025 Jul 8;16(1):6274. doi: 10.1038/s41467-025-60466-1. Nat Commun. 2025. PMID: 40628696 Free PMC article.
Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort study.
Al-Hakim A, Trikha R, Phyu Htut EE, Chowdhury O, MacLennan CA, Chee A, Kaul A, Poulter JA, Cargo C, Wason JMS, Ahmed S, Basu TN, Gogoi S, Galloway J, Jolles S, Mistry A, Payne EM, Tattersall RS, Youngstein T, Lachmann HJ, Kulasekararaj A, Savic S. Al-Hakim A, et al. Among authors: mistry a. Lancet Rheumatol. 2025 Jul;7(7):e472-e484. doi: 10.1016/S2665-9913(25)00034-7. Epub 2025 May 21. Lancet Rheumatol. 2025. PMID: 40412417 Free article.
414 results