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Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
Grove JI, Lo PCK, Shrine N, Barwell J, Wain LV, Tobin MD, Salter AM, Borkar AN, Cuevas-Ocaña S, Bennett N, John C, Ntalla I, Jones GE, Neal CP, Thomas MG, Kuht H, Gupta P, Vemala VM, Grant A, Adewoye AB, Shenoy KT, Balakumaran LK, Hollox EJ, Hannan NRF, Aithal GP. Grove JI, et al. Among authors: jones ge. JHEP Rep. 2023 Apr 23;5(8):100764. doi: 10.1016/j.jhepr.2023.100764. eCollection 2023 Aug. JHEP Rep. 2023. PMID: 37484212 Free PMC article.
Estimating the clinical prevalence of Wilson's disease in the UK.
Wijayasiri P, Hayre J, Nicholson ES, Kaye P, Wilkes EA, Evans J, Aithal GP, Jones G, Pearce F, Aravinthan AD. Wijayasiri P, et al. JHEP Rep. 2021 Jul 7;3(5):100329. doi: 10.1016/j.jhepr.2021.100329. eCollection 2021 Oct. JHEP Rep. 2021. PMID: 34381985 Free PMC article.
An approach to familial lymphoedema.
Jones GE, Mansour S. Jones GE, et al. Clin Med (Lond). 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. Clin Med (Lond). 2017. PMID: 29196357 Free PMC article. Review.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
421 results