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Hammarsjö A, Pettersson M, Chitayat D, et al. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. J Hum Genet. 2021;66(10):995-1008doi: 10.1038/s10038-021-00925-x.
Hammarsjö, A., Pettersson, M., Chitayat, D., Handa, A., Anderlid, B. M., Bartocci, M., Basel, D., Batkovskyte, D., Beleza-Meireles, A., Conner, P., Eisfeldt, J., Girisha, K. M., Chung, B. H., Horemuzova, E., Hyodo, H., Korņejeva, L., Lagerstedt-Robinson, K., Lin, A. E., Magnusson, M., Moosa, S., Nayak, S. S., 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. (2021). High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. Journal of human genetics, 66(10), 995-1008. https://doi.org/10.1038/s10038-021-00925-x
Hammarsjö, Anna, et al. "High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses." Journal of human genetics vol. 66,10 (2021): 995-1008. doi: https://doi.org/10.1038/s10038-021-00925-x
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. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. J Hum Genet. 2021 Oct;66(10):995-1008. doi: 10.1038/s10038-021-00925-x. Epub 2021 Apr 20. PMID: 33875766; PMCID: PMC8472897.
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