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

Year Number of Results
2010 1
2011 4
2012 4
2013 7
2014 3
2015 5
2016 4
2017 7
2018 4
2019 3
2020 7
2021 11
2022 7
2023 8
2024 6

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68 results

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Page 1
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, Bowen DT, Cunnington JR, Baguley E, Quinn M, Green M, McGonagle D, Beck DB, Werner A, Savic S. Poulter JA, et al. Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286. Blood. 2021. PMID: 33690815 Free PMC article.
Reply.
Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: poulter ja. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 Free article. No abstract available.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: poulter ja. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Ferrada MA, et al. Among authors: poulter ja. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985. Blood. 2022. PMID: 35793467 Free PMC article.
Genetics of somatic auto-inflammatory disorders.
Poulter JA, Savic S. Poulter JA, et al. Semin Hematol. 2021 Oct;58(4):212-217. doi: 10.1053/j.seminhematol.2021.10.001. Epub 2021 Oct 9. Semin Hematol. 2021. PMID: 34802542 Free article. Review.
D-Type Cyclins in Development and Disease.
Saleban M, Harris EL, Poulter JA. Saleban M, et al. Among authors: poulter ja. Genes (Basel). 2023 Jul 14;14(7):1445. doi: 10.3390/genes14071445. Genes (Basel). 2023. PMID: 37510349 Free PMC article. Review.
Neurodegenerative Disease and the NLRP3 Inflammasome.
Holbrook JA, Jarosz-Griffiths HH, Caseley E, Lara-Reyna S, Poulter JA, Williams-Gray CH, Peckham D, McDermott MF. Holbrook JA, et al. Among authors: poulter ja. Front Pharmacol. 2021 Mar 10;12:643254. doi: 10.3389/fphar.2021.643254. eCollection 2021. Front Pharmacol. 2021. PMID: 33776778 Free PMC article. Review.
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Smith CEL, et al. Among authors: poulter ja. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Front Physiol. 2017. PMID: 28694781 Free PMC article. Review.
Inflammasome inhibition under physiological and pharmacological conditions.
Caseley EA, Poulter JA, Rodrigues F; Immunome Project Consortium for Autoinflammatory Disorders (ImmunAID); McDermott MF. Caseley EA, et al. Among authors: poulter ja. Genes Immun. 2020 Aug;21(4):211-223. doi: 10.1038/s41435-020-0104-x. Epub 2020 Jul 17. Genes Immun. 2020. PMID: 32681062 Free article. Review.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: poulter ja. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
68 results