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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Lessel D, et al. Among authors: arlt mf. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19. Hum Genet. 2018. PMID: 30450527 Free PMC article.
Replication stress and mechanisms of CNV formation.
Arlt MF, Wilson TE, Glover TW. Arlt MF, et al. Curr Opin Genet Dev. 2012 Jun;22(3):204-10. doi: 10.1016/j.gde.2012.01.009. Epub 2012 Feb 23. Curr Opin Genet Dev. 2012. PMID: 22365495 Free PMC article. Review.
Mechanisms of common fragile site instability.
Glover TW, Arlt MF, Casper AM, Durkin SG. Glover TW, et al. Among authors: arlt mf. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R197-205. doi: 10.1093/hmg/ddi265. Hum Mol Genet. 2005. PMID: 16244318 Review.
Fragile sites in cancer: more than meets the eye.
Glover TW, Wilson TE, Arlt MF. Glover TW, et al. Among authors: arlt mf. Nat Rev Cancer. 2017 Jul 25;17(8):489-501. doi: 10.1038/nrc.2017.52. Nat Rev Cancer. 2017. PMID: 28740117 Free PMC article. Review.
36 results