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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
Gómez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortés-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW. Gómez-Herreros F, et al. Among authors: greally mt. Nat Genet. 2014 May;46(5):516-21. doi: 10.1038/ng.2929. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658003
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, Webb D, Fitzsimons M, Greally M, Delanty N, Cavalleri GL. Benson KA, et al. Among authors: greally m. Eur J Hum Genet. 2020 Aug;28(8):1066-1077. doi: 10.1038/s41431-020-0610-3. Epub 2020 Apr 1. Eur J Hum Genet. 2020. PMID: 32238909 Free PMC article.
KBG syndrome mimicking genetic generalized epilepsy.
Murphy MJ, McSweeney N, Cavalleri GL, Greally MT, Benson KA, Costello DJ. Murphy MJ, et al. Among authors: greally mt. Epilepsy Behav Rep. 2022 Apr 20;19:100545. doi: 10.1016/j.ebr.2022.100545. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35573061 Free PMC article.
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Roessler F, et al. Among authors: greally mt. Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36426740 Review.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: greally mt. J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. J Med Genet. 2013. PMID: 24123876
62 results