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Advancing Evidence Generation for Circulating Tumor DNA: Lessons Learned from A Multi-Assay Study of Baseline Circulating Tumor DNA Levels across Cancer Types and Stages.
McKelvey BA, Andrews HS, Baehner FL, Chen J, Espenschied CR, Fabrizio D, Gorton V, Gould C, Guinney J, Jones G, Lv X, Nahorski MS, Palomares MR, Pestano GA, Sausen M, Silk A, Zhang N, Zhang Z, Stewart MD, Allen JD. McKelvey BA, et al. Among authors: nahorski ms. Diagnostics (Basel). 2024 Apr 27;14(9):912. doi: 10.3390/diagnostics14090912. Diagnostics (Basel). 2024. PMID: 38732326 Free PMC article.
Evidence of a genetic background predisposing to complex regional pain syndrome type 1.
Shaikh SS, Goebel A, Lee MC, Nahorski MS, Shenker N, Pamela Y, Drissi I, Brown C, Ison G, Shaikh MF, Kuttikat A, Woods WA, Dixit A, Stouffer K, Clarke MC, Menon DK, Woods CG. Shaikh SS, et al. Among authors: nahorski ms. J Med Genet. 2024 Jan 19;61(2):163-170. doi: 10.1136/jmg-2023-109236. J Med Genet. 2024. PMID: 37816627 Free PMC article.
EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling.
Randzavola LO, Mortimer PM, Garside E, Dufficy ER, Schejtman A, Roumelioti G, Yu L, Pardo M, Spirohn K, Tolley C, Brandt C, Harcourt K, Nichols E, Nahorski M, Woods G, Williamson JC, Suresh S, Sowerby JM, Matsumoto M, Santos CXC, Kiar CS, Mukhopadhyay S, Rae WM, Dougan GJ, Grainger J, Lehner PJ, Calderwood MA, Choudhary J, Clare S, Speak A, Santilli G, Bateman A, Smith KGC, Magnani F, Thomas DC. Randzavola LO, et al. Among authors: nahorski m. Elife. 2022 Nov 24;11:e76387. doi: 10.7554/eLife.76387. Elife. 2022. PMID: 36421765 Free PMC article.
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Drissi I, Fletcher E, Shaheen R, Nahorski M, Alhashem AM, Lisgo S, Fernández-Jaén A, Schon K, Tlili-Graiess K, Smithson SF, Lindsay S, J Sharpe H, Alkuraya FS, Woods G. Drissi I, et al. Among authors: nahorski m. J Med Genet. 2022 Apr;59(4):358-365. doi: 10.1136/jmedgenet-2020-107237. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820834 Free PMC article.
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
Lee MC, Nahorski MS, Hockley JRF, Lu VB, Ison G, Pattison LA, Callejo G, Stouffer K, Fletcher E, Brown C, Drissi I, Wheeler D, Ernfors P, Menon D, Reimann F, Smith ESJ, Woods CG. Lee MC, et al. Among authors: nahorski ms. Cell Rep. 2020 Jul 21;32(3):107941. doi: 10.1016/j.celrep.2020.107941. Cell Rep. 2020. PMID: 32697988 Free PMC article.
PEHO syndrome: the endpoint of different genetic epilepsies.
Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG. Chitre M, et al. Among authors: nahorski ms. J Med Genet. 2018 Dec;55(12):803-813. doi: 10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4. J Med Genet. 2018. PMID: 30287594
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzmán-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS. Nahorski MS, et al. Brain. 2018 Jul 1;141(7):1934-1945. doi: 10.1093/brain/awy135. Brain. 2018. PMID: 29868776 Free PMC article.
26 results