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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: girisha km. 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.
Symmetrical terminal transverse limb deficiencies.
Agarwal D, Nayak SS, Adiga PK, Phadke SR, Girisha KM. Agarwal D, et al. Among authors: girisha km. Indian J Pediatr. 2015 May;82(5):478-9. doi: 10.1007/s12098-014-1569-2. Epub 2014 Nov 5. Indian J Pediatr. 2015. PMID: 25366287 No abstract available.
Clinical utility of fetal autopsy and its impact on genetic counseling.
Nayak SS, Shukla A, Lewis L, Kadavigere R, Mathew M, Adiga PK, Vasudeva A, Kumar P, Shetty J, Shah H, Girisha KM. Nayak SS, et al. Among authors: girisha km. Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25763538
What does fetal autopsy unmask in oligohydramnios?
Nayak SS, Shukla A, Kodandapani S, Adiga PK, Girisha KM. Nayak SS, et al. Among authors: girisha km. J Matern Fetal Neonatal Med. 2016;29(14):2347-51. doi: 10.3109/14767058.2015.1085021. Epub 2015 Sep 18. J Matern Fetal Neonatal Med. 2016. PMID: 26381033 Free article.
286 results