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Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.
Virmani N, Vellarikkal SK, Verma A, Jayarajan R, Sakhiya J, Desai C, Sivasubbu S, Scaria V. Virmani N, et al. Among authors: jayarajan r. Indian J Dermatol Venereol Leprol. 2018 May-Jun;84(3):344-346. doi: 10.4103/ijdvl.IJDVL_268_17. Indian J Dermatol Venereol Leprol. 2018. PMID: 29600799 Free article. No abstract available.
A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.
Vellarikkal SK, Jayarajan R, Verma A, Ravi R, Senthilvel V, Kumar A, Saini L, Gulati S, Lal M, Mathur A, Chhetri MK, Faruq M, Scaria V, Sivasubbu S. Vellarikkal SK, et al. Among authors: jayarajan r. Clin Genet. 2018 Aug;94(2):271-273. doi: 10.1111/cge.13251. Epub 2018 Apr 18. Clin Genet. 2018. PMID: 29667716 No abstract available.
Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
Gupta A, Sharma Y, Deo K, Vellarikkal S, Jayarajan R, Dixit V, Verma A, Scaria V, Sivasubbu S. Gupta A, et al. Among authors: jayarajan r. F1000Res. 2015 Jul 31;4:446. doi: 10.12688/f1000research.6779.1. eCollection 2015. F1000Res. 2015. PMID: 26594337 Free PMC article.
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa.
Karuthedath Vellarikkal S, Jayarajan R, Verma A, Nair S, Ravi R, Senthivel V, Sivasubbu S, Scaria V. Karuthedath Vellarikkal S, et al. Among authors: jayarajan r. F1000Res. 2016 May 17;5:900. doi: 10.12688/f1000research.8380.2. eCollection 2016. F1000Res. 2016. PMID: 27408687 Free PMC article.
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Ray SB, Dinda AK, Kabra M, Kaur P, Sharma VK, Sethuraman G. Yenamandra VK, et al. Among authors: jayarajan r. J Dermatol Sci. 2017 Apr;86(1):30-36. doi: 10.1016/j.jdermsci.2016.12.020. Epub 2016 Dec 29. J Dermatol Sci. 2017. PMID: 28087116
Pharmacogenetic landscape of DPYD variants in south Asian populations by integration of genome-scale data.
Hariprakash JM, Vellarikkal SK, Keechilat P, Verma A, Jayarajan R, Dixit V, Ravi R, Senthivel V, Kumar A, Sehgal P, Sonakar AK, Ambawat S, Giri AK, Philip A, Sivadas A, Faruq M, Bharadwaj D, Sivasubbu S, Scaria V. Hariprakash JM, et al. Among authors: jayarajan r. Pharmacogenomics. 2018 Feb;19(3):227-241. doi: 10.2217/pgs-2017-0101. Epub 2017 Dec 14. Pharmacogenomics. 2018. PMID: 29239269
57 results