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Page 1
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: horemuzova e. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BH, Horemuzova E, Hyodo H, Korņejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G. Hammarsjö A, et al. Among authors: horemuzova e. J Hum Genet. 2021 Oct;66(10):995-1008. doi: 10.1038/s10038-021-00925-x. Epub 2021 Apr 20. J Hum Genet. 2021. PMID: 33875766 Free PMC article.
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S. Wang Z, et al. Among authors: horemuzova e. J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26. J Hum Genet. 2017. PMID: 28123176
Autosomal recessive brachyolmia: early radiological findings.
Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Handa A, et al. Among authors: horemuzova e. Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21. Skeletal Radiol. 2016. PMID: 27544198
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G. Tham E, et al. Among authors: horemuzova e. Clin Genet. 2015 May;87(5):496-8. doi: 10.1111/cge.12466. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25060605 No abstract available.
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Leal GF, et al. Among authors: horemuzova e. J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4. J Bone Miner Res. 2018. PMID: 29178448 Free article.
20 results