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Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
Halliday BJ, Fukuzawa R, Markie DM, Grundy RG, Ludgate JL, Black MA, Skeen JE, Weeks RJ, Catchpoole DR, Roberts AGK, Reeve AE, Morison IM. Halliday BJ, et al. Among authors: markie dm. PLoS Genet. 2018 Jun 18;14(6):e1007399. doi: 10.1371/journal.pgen.1007399. eCollection 2018 Jun. PLoS Genet. 2018. PMID: 29912901 Free PMC article.
Wilms tumor in patients with osteopathia striata with cranial sclerosis.
Bach A, Mi J, Hunter M, Halliday BJ, García-Miñaúr S, Sperotto F, Trevisson E, Markie D, Morison IM, Shinawi M, Willis DN, Robertson SP. Bach A, et al. Eur J Hum Genet. 2021 Mar;29(3):396-401. doi: 10.1038/s41431-020-00718-4. Epub 2020 Sep 2. Eur J Hum Genet. 2021. PMID: 32879452 Free PMC article.
Tuberous sclerosis complex: a complex case.
Powell RM, Pattison S, Moravec JC, Bhat B, Guirguis N, Markie D, Jones GT, Copedo J, Print CG, Morison IM, Gavryushkin A, Gray B, Wyeth LJ, Eccles MR, Macaulay EC. Powell RM, et al. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006182. doi: 10.1101/mcs.a006182. Print 2022 Apr. Cold Spring Harb Mol Case Stud. 2022. PMID: 35483879 Free PMC article.
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ, Baynam G, Ewans L, Greenhalgh L, Leventer RJ, Pilz DT, Sachdev R, Scheffer IE, Markie DM, McGillivray G, Robertson SP, Mandelstam S. Halliday BJ, et al. Among authors: markie dm. AJNR Am J Neuroradiol. 2022 Nov;43(11):1660-1666. doi: 10.3174/ajnr.A7663. Epub 2022 Oct 13. AJNR Am J Neuroradiol. 2022. PMID: 36229163 Free PMC article.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Gray MJ, et al. Among authors: markie dm. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001. Am J Hum Genet. 2015. PMID: 26637977 Free PMC article.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP. Cappello S, et al. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056717
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