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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Rice GI, et al. Among authors: robinson ra. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686847 Free PMC article.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: robinson ra. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Corrigendum to 'Use of an ambient artificial intelligence tool to improve quality of clinical documentation' Future Healthcare Journal Volume 11, Issue 3, September 2024, 100157.
Balloch J, Sridharan S, Oldham G, Wray J, Gough P, Robinson R, Sebire NJ, Khalil S, Asgari E, Tan C, Taylor A, Pimenta D. Balloch J, et al. Future Healthc J. 2025 Apr 30;12(2):100247. doi: 10.1016/j.fhj.2025.100247. eCollection 2025 Jun. Future Healthc J. 2025. PMID: 40391072 Free PMC article.
LC-MS/MS proteomics identifies plasma proteins related to cognition over 9-year follow-up.
Adegboye HA, Patterson KL, Libby J, Sun Y, Zhang P, Liu D, Robb WH, Peterson AJ, Cole KR, Arul AB, Oliver NC, Whitaker MD, Pechman KR, Dumitrescu L, Bolton CJ, Blennow K, Zetterberg H, Hohman TJ, Robinson RAS, Jefferson AL. Adegboye HA, et al. Among authors: robinson ras. Alzheimers Dement. 2025 Jun;21(6):e70276. doi: 10.1002/alz.70276. Alzheimers Dement. 2025. PMID: 40469059 Free PMC article.
Hyperinsulinemic male LEW.1WR1 rats show early signs of impaired liver metabolism.
Wimalarathne M, Bowser BL, Arul AB, Wilkerson-Vidal QC, David MA, Hunt EC, Gibson H, Robinson RAS, Love-Rutledge ST. Wimalarathne M, et al. Among authors: robinson ras. Exp Mol Pathol. 2025 Mar;141:104955. doi: 10.1016/j.yexmp.2025.104955. Epub 2025 Feb 11. Exp Mol Pathol. 2025. PMID: 39938190 Free PMC article.
Broadening alloselectivity of T cell receptors by structure guided engineering.
Karuppiah V, Sangani D, Whaley L, Pengelly R, Uluocak P, Carreira RJ, Hock M, Cristina PD, Bartasun P, Dobrinic P, Smith N, Barnbrook K, Robinson RA, Harper S. Karuppiah V, et al. Among authors: robinson ra. Sci Rep. 2024 Nov 6;14(1):26851. doi: 10.1038/s41598-024-75140-7. Sci Rep. 2024. PMID: 39500929 Free PMC article.
564 results