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Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing.
Mahajan R, Vellarikkal SK, Handa S, Verma A, Jayarajan R, Kumar A, De D, Kaur J, Panigrahi I, Vineeth VS, Sivasubbu S, Scaria V. Mahajan R, et al. Among authors: jayarajan r. J Eur Acad Dermatol Venereol. 2018 Dec;32(12):e433-e435. doi: 10.1111/jdv.14909. Epub 2018 Aug 14. J Eur Acad Dermatol Venereol. 2018. PMID: 29512197 No abstract available.
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.
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
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia.
Rawat A, Karuthedath Vellarikkal S, Verma A, Jayarajan R, Gupta A, Singh S, Chopra A, Kumar R, Scaria V, Sivasubbu S. Rawat A, et al. Among authors: jayarajan r. F1000Res. 2016 Nov 14;5:2667. doi: 10.12688/f1000research.9472.2. eCollection 2016. F1000Res. 2016. PMID: 28928935 Free PMC article.
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