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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Justice CM, Cuellar A, Bala K, Sabourin JA, Cunningham ML, Crawford K, Phipps JM, Zhou Y, Cilliers D, Byren JC, Johnson D, Wall SA, Morton JEV, Noons P, Sweeney E, Weber A, Rees KEM, Wilson LC, Simeonov E, Kaneva R, Yaneva N, Georgiev K, Bussarsky A, Senders C, Zwienenberg M, Boggan J, Roscioli T, Tamburrini G, Barba M, Conway K, Sheffield VC, Brody L, Mills JL, Kay D, Sicko RJ, Langlois PH, Tittle RK, Botto LD, Jenkins MM, LaSalle JM, Lattanzi W, Wilkie AOM, Wilson AF, Romitti PA, Boyadjiev SA; National Birth Defects Prevention Study. Justice CM, et al. Among authors: simeonov e. Hum Genet. 2020 Aug;139(8):1077-1090. doi: 10.1007/s00439-020-02157-z. Epub 2020 Apr 7. Hum Genet. 2020. PMID: 32266521 Free PMC article.
Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.
Peycheva V, Kamenarova K, Ivanova N, Stamatov D, Avdjieva-Tzavella D, Alexandrova I, Zhelyazkova S, Pacheva I, Dimova P, Ivanov I, Litvinenko I, Bozhinova V, Tournev I, Simeonov E, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: simeonov e. Gene. 2018 Aug 15;667:45-55. doi: 10.1016/j.gene.2018.05.015. Epub 2018 May 9. Gene. 2018. PMID: 29753047
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V, Ivanova N, Kamenarova K, Panova M, Pacheva I, Ivanov I, Bojidarova M, Tacheva G, Stamatov D, Litvinenko I, Hristova D, Deneva D, Rodopska E, Slavkova E, Aleksandrova I, Simeonov E, Dimova P, Bojinova V, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: simeonov e. Turk J Pediatr. 2020;62(5):711-725. doi: 10.24953/turkjped.2020.05.002. Turk J Pediatr. 2020. PMID: 33108073 Free article.
Genetic services in Bulgaria.
Simeonov E, Kremenski I. Simeonov E, et al. Eur J Hum Genet. 1997;5 Suppl 2:41-5. Eur J Hum Genet. 1997. PMID: 9450194 No abstract available.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Among authors: simeonov e. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353
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