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Page 1
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: clouston p. 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.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Bernkopf M, et al. Among authors: clouston p. Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w. Nat Commun. 2023. PMID: 36792598 Free PMC article.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM. Feenstra HM, et al. Among authors: clouston p. Genes (Basel). 2022 Aug 10;13(8):1423. doi: 10.3390/genes13081423. Genes (Basel). 2022. PMID: 36011334 Free PMC article.
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: clouston p. JAMA Netw Open. 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. JAMA Netw Open. 2019. PMID: 31199449 Free PMC article.
Atypical choroideremia presenting with early-onset macular atrophy.
Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM. Kontos G, et al. Among authors: clouston p. Acta Ophthalmol. 2019 Sep;97(6):633-636. doi: 10.1111/aos.14025. Epub 2019 Jan 28. Acta Ophthalmol. 2019. PMID: 30690895 Free 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. Among authors: clouston p. 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.
Fragile XE: an important differential diagnosis.
Krishnan V, Clouston P, Crocker M, Macpherson J, Heydon F, Stewart H. Krishnan V, et al. Among authors: clouston p. BMJ Case Rep. 2010;2010:bcr06.2009.1964. doi: 10.1136/bcr.06.2009.1964. Epub 2010 Mar 23. BMJ Case Rep. 2010. PMID: 22442650 Free PMC article.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: clouston p. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.
35 results