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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H. Walsh R, et al. Among authors: woodley j. Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17. Genet Med. 2017. PMID: 27532257 Free PMC article.
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Harper AR, Bowman M, Hayesmoore JBG, Sage H, Salatino S, Blair E, Campbell C, Currie B, Goel A, McGuire K, Ormondroyd E, Sergeant K, Waring A, Woodley J, Kramer CM, Neubauer S, Farrall M, Watkins H, Thomson KL; HCMR Investigators. Harper AR, et al. Among authors: woodley j. Circ Genom Precis Med. 2020 Jun;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783. Epub 2020 Mar 12. Circ Genom Precis Med. 2020. PMID: 32163302 Free PMC article.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L. Foster A, et al. Among authors: woodley j. Clin Genet. 2020 Jul;98(1):19-31. doi: 10.1111/cge.13752. Epub 2020 May 4. Clin Genet. 2020. PMID: 32291752
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S. de Bruijn SE, et al. Among authors: woodley j. Front Genet. 2024 Oct 23;15:1469686. doi: 10.3389/fgene.2024.1469686. eCollection 2024. Front Genet. 2024. PMID: 39507620 Free PMC article.
188 results