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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study; Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. Reijnders MR, et al. Among authors: zachariadis v. Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833328 Free PMC article.
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A. Nilsson D, et al. Among authors: zachariadis v. Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5. Hum Mutat. 2017. PMID: 27862604 Free PMC article.
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A. Järviaho T, et al. Among authors: zachariadis v. Br J Haematol. 2019 Apr;185(2):354-357. doi: 10.1111/bjh.15494. Epub 2018 Jul 13. Br J Haematol. 2019. PMID: 30004112 Free article. No abstract available.
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.
Ivanov Öfverholm I, Zachariadis V, Taylan F, Marincevic-Zuniga Y, Tran AN, Saft L, Nilsson D, Syvänen AC, Lönnerholm G, Harila-Saari A, Nordenskjöld M, Heyman M, Nordgren A, Nordlund J, Barbany G. Ivanov Öfverholm I, et al. Among authors: zachariadis v. Leuk Lymphoma. 2020 Mar;61(3):604-613. doi: 10.1080/10428194.2019.1678153. Epub 2019 Oct 22. Leuk Lymphoma. 2020. PMID: 31640433
29 results