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Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S, Brady AF, Balasubramanian M, Munot P. Sabanathan S, et al. Among authors: robinson r. Neuromuscul Disord. 2023 Jan;33(1):50-57. doi: 10.1016/j.nmd.2022.10.004. Epub 2022 Oct 25. Neuromuscul Disord. 2023. PMID: 36522252 Review.
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.
An HLA-E-targeted TCR bispecific molecule redirects T cell immunity against Mycobacterium tuberculosis.
Paterson RL, La Manna MP, Arena De Souza V, Walker A, Gibbs-Howe D, Kulkarni R, Fergusson JR, Mulakkal NC, Monteiro M, Bunjobpol W, Dembek M, Martin-Urdiroz M, Grant T, Barber C, Garay-Baquero DJ, Tezera LB, Lowne D, Britton-Rivet C, Pengelly R, Chepisiuk N, Singh PK, Woon AP, Powlesland AS, McCully ML, Caccamo N, Salio M, Badami GD, Dorrell L, Knox A, Robinson R, Elkington P, Dieli F, Lepore M, Leonard S, Godinho LF. Paterson RL, et al. Among authors: robinson r. Proc Natl Acad Sci U S A. 2024 May 7;121(19):e2318003121. doi: 10.1073/pnas.2318003121. Epub 2024 May 1. Proc Natl Acad Sci U S A. 2024. PMID: 38691588 Free PMC article.
Longitudinal Assessment of Tumor-Infiltrating Lymphocytes in Primary Breast Cancer Following Neoadjuvant Radiation Therapy.
Yoneyama M, Zormpas-Petridis K, Robinson R, Sobhani F, Provenzano E, Steel H, Lightowlers S, Towns C, Castillo SP, Anbalagan S, Lund T, Wennerberg E, Melcher A, Coles CE, Roxanis I, Yuan Y, Somaiah N. Yoneyama M, et al. Among authors: robinson r. Int J Radiat Oncol Biol Phys. 2024 Apr 26:S0360-3016(24)00566-2. doi: 10.1016/j.ijrobp.2024.04.065. Online ahead of print. Int J Radiat Oncol Biol Phys. 2024. PMID: 38677525
Imaging 3D chemistry at 1 nm resolution with fused multi-modal electron tomography.
Schwartz J, Di ZW, Jiang Y, Manassa J, Pietryga J, Qian Y, Cho MG, Rowell JL, Zheng H, Robinson RD, Gu J, Kirilin A, Rozeveld S, Ercius P, Fessler JA, Xu T, Scott M, Hovden R. Schwartz J, et al. Among authors: robinson rd. Nat Commun. 2024 Apr 26;15(1):3555. doi: 10.1038/s41467-024-47558-0. Nat Commun. 2024. PMID: 38670945 Free PMC article.
4,111 results