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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR; Genomics England Research Consortium; Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM. Rowlands C, et al. Among authors: lord j. Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. Sci Rep. 2021. PMID: 34663891 Free PMC article.
Pathogenicity and selective constraint on variation near splice sites.
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study. Lord J, et al. Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26. Genome Res. 2019. PMID: 30587507 Free PMC article.
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G, Lord J, Baralle D. Wheway G, et al. Among authors: lord j. Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194433. doi: 10.1016/j.bbagrm.2019.194433. Epub 2019 Nov 4. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 31698098 Review.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: lord j. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G, Thomas NS, Carroll M, Coles J, Doherty R; Genomics England Research Consortium; Goggin P, Green B, Harris A, Hunt D, Jackson CL, Lord J, Mennella V, Thompson J, Walker WT, Lucas JS. Wheway G, et al. Among authors: lord j. BMC Med Genomics. 2021 Sep 23;14(1):234. doi: 10.1186/s12920-021-01084-w. BMC Med Genomics. 2021. PMID: 34556108 Free PMC article.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. Best S, et al. Among authors: lord j. J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. J Med Genet. 2022. PMID: 34716235 Free PMC article.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, Lin S, Turner S, Robinson H, Leslie JS, Baple E; Genomics England Research Consortium; Toomes C, Inglehearn C, Wheway G, Johnson CA. Best S, et al. Among authors: lord j. J Med Genet. 2022 Dec;59(12):1151-1164. doi: 10.1136/jmedgenet-2022-108476. Epub 2022 Jun 28. J Med Genet. 2022. PMID: 35764379 Free PMC article.
1,624 results