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Genomics of rare genetic diseases-experiences from India.
GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K, Jännäri M, Crisóstomo L, Kuusi M, Patyra K, Melnyk V, Linnossuo V, Ojala J, Ravi R, Löf C, Mäkelä JA, Miettinen P, Laakso S, Ojaniemi M, Jääskeläinen J, Laakso M, Bossowski F, Sawicka B, Stożek K, Bossowski A, Kleinau G, Scheerer P, FinnGen F, Reeve MP, Kero J. Makkonen K, et al. Among authors: ravi r. JCI Insight. 2024 Jan 9;9(4):e167092. doi: 10.1172/jci.insight.167092. JCI Insight. 2024. PMID: 38194289 Free article.
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: ravi r. Pharmacogenomics. 2018 Feb;19(3):227-241. doi: 10.2217/pgs-2017-0101. Epub 2017 Dec 14. Pharmacogenomics. 2018. PMID: 29239269
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: ravi r. F1000Res. 2016 May 17;5:900. doi: 10.12688/f1000research.8380.2. eCollection 2016. F1000Res. 2016. PMID: 27408687 Free PMC article.
12 results