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Page 1
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT. Wood KA, et al. Among authors: thomas hb. Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169. Hum Mol Genet. 2019. PMID: 31304552 Free PMC article.
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Harkness JR, et al. Among authors: thomas hb. Kidney Int Rep. 2020 Jul 14;5(10):1823-1827. doi: 10.1016/j.ekir.2020.07.001. eCollection 2020 Oct. Kidney Int Rep. 2020. PMID: 33102976 Free PMC article. No abstract available.
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.
Eales JM, Jiang X, Xu X, Saluja S, Akbarov A, Cano-Gamez E, McNulty MT, Finan C, Guo H, Wystrychowski W, Szulinska M, Thomas HB, Pramanik S, Chopade S, Prestes PR, Wise I, Evangelou E, Salehi M, Shakanti Y, Ekholm M, Denniff M, Nazgiewicz A, Eichinger F, Godfrey B, Antczak A, Glyda M, Król R, Eyre S, Brown J, Berzuini C, Bowes J, Caulfield M, Zukowska-Szczechowska E, Zywiec J, Bogdanski P, Kretzler M, Woolf AS, Talavera D, Keavney B, Maffia P, Guzik TJ, O'Keefe RT, Trynka G, Samani NJ, Hingorani A, Sampson MG, Morris AP, Charchar FJ, Tomaszewski M. Eales JM, et al. Among authors: thomas hb. Nat Genet. 2021 May;53(5):630-637. doi: 10.1038/s41588-021-00835-w. Epub 2021 May 6. Nat Genet. 2021. PMID: 33958779
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: thomas hb. Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. Sci Rep. 2021. PMID: 34663891 Free PMC article.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Wood KA, Ellingford JM, Thomas HB; Genomics UK Research Consortium; Douzgou S, Beaman GM, Hobson E, Prescott K, O'Keefe RT, Newman WG. Wood KA, et al. Among authors: thomas hb. Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5. Clin Genet. 2022. PMID: 34713892
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.
Jayadev R, Morais MRPT, Ellingford JM, Srinivasan S, Naylor RW, Lawless C, Li AS, Ingham JF, Hastie E, Chi Q, Fresquet M, Koudis NM, Thomas HB, O'Keefe RT, Williams E, Adamson A, Stuart HM, Banka S, Smedley D; Genomics England Research Consortium; Sherwood DR, Lennon R. Jayadev R, et al. Among authors: thomas hb. Sci Adv. 2022 May 20;8(20):eabn2265. doi: 10.1126/sciadv.abn2265. Epub 2022 May 18. Sci Adv. 2022. PMID: 35584218 Free PMC article.
42 results