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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Calame DG, et al. Among authors: robson sc. Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28. Ann Neurol. 2022. PMID: 35471564 Free PMC article.
Free heme exacerbates colonic injury induced by anti-cancer therapy.
Seika P, Janikova M, Asokan S, Janovicova L, Csizmadia E, O'Connell M, Robson SC, Glickman J, Wegiel B. Seika P, et al. Among authors: robson sc. Front Immunol. 2023 Jun 5;14:1184105. doi: 10.3389/fimmu.2023.1184105. eCollection 2023. Front Immunol. 2023. PMID: 37342339 Free PMC article.
Impact of nocturnal hypoxia on glycaemic control, appetite, gut microbiota and inflammation in adults with type 2 diabetes mellitus: A single-blind cross-over trial.
Shepherd AI, James TJ, Gould AAM, Mayes H, Neal R, Shute J, Tipton MJ, Massey H, Saynor ZL, Perissiou M, Montgomery H, Sturgess C, Makaronidis J, Murray AJ, Grocott MPW, Cummings M, Young-Min S, Rennell-Smyth J, McNarry MA, Mackintosh KA, Dent H, Robson SC, Corbett J. Shepherd AI, et al. Among authors: robson sc. J Physiol. 2024 May 20. doi: 10.1113/JP285322. Online ahead of print. J Physiol. 2024. PMID: 38769692
Development of endothelial-targeted CD39 as a therapy for ischemic stroke.
Lee NT, Savvidou I, Selan C, Calvello I, Vuong A, Wright DK, Brkljaca R, Willcox A, Chia JSJ, Wang X, Peter K, Robson SC, Medcalf RL, Nandurkar HH, Sashindranath M. Lee NT, et al. Among authors: robson sc. J Thromb Haemost. 2024 May 14:S1538-7836(24)00281-2. doi: 10.1016/j.jtha.2024.04.023. Online ahead of print. J Thromb Haemost. 2024. PMID: 38754782
Machine learning-enabled maternal risk assessment for women with pre-eclampsia (the PIERS-ML model): a modelling study.
Montgomery-Csobán T, Kavanagh K, Murray P, Robertson C, Barry SJE, Vivian Ukah U, Payne BA, Nicolaides KH, Syngelaki A, Ionescu O, Akolekar R, Hutcheon JA, Magee LA, von Dadelszen P; PIERS Consortium. Montgomery-Csobán T, et al. Lancet Digit Health. 2024 Apr;6(4):e238-e250. doi: 10.1016/S2589-7500(23)00267-4. Lancet Digit Health. 2024. PMID: 38519152 Free PMC article.
793 results