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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. Among authors: shanks me. 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.
MERTK missense variants in three patients with retinitis pigmentosa.
Poli FE, Yusuf IH, Clouston P, Shanks M, Whitfield J, Charbel Issa P, MacLaren RE. Poli FE, et al. Ophthalmic Genet. 2023 Feb;44(1):74-82. doi: 10.1080/13816810.2022.2113541. Epub 2022 Aug 29. Ophthalmic Genet. 2023. PMID: 36036427 Free PMC article.
Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.
Randazzo NM MBBCh, BSc(Hons), Shanks ME PhD, Clouston P PhD, FRCPath, MacLaren RE MB ChB, DPhil, FRCOphth. Randazzo NM MBBCh, BSc(Hons), et al. Among authors: shanks me phd. Ocul Immunol Inflamm. 2019;27(5):693-698. doi: 10.1080/09273948.2017.1370651. Epub 2017 Oct 17. Ocul Immunol Inflamm. 2019. PMID: 29040051 Free PMC article.
31 results