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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. Among authors: dhandapany ps. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 Free PMC article.
Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy.
Jain PK, Jayappa S, Sairam T, Mittal A, Paul S, Rao VJ, Chittora H, Kashyap DK, Palakodeti D, Thangaraj K, Shenthar J, Koranchery R, Rajendran R, Alireza H, Mohanan KS, Rathinavel A, Dhandapany PS. Jain PK, et al. Among authors: dhandapany ps. J Med Genet. 2022 Oct;59(10):984-992. doi: 10.1136/jmedgenet-2021-107866. Epub 2021 Dec 16. J Med Genet. 2022. PMID: 34916228
Mitochondrial genome variations in idiopathic dilated cardiomyopathy.
Govindaraj P, Rani B, Sundaravadivel P, Vanniarajan A, Indumathi KP, Khan NA, Dhandapany PS, Rani DS, Tamang R, Bahl A, Narasimhan C, Rakshak D, Rathinavel A, Premkumar K, Khullar M, Thangaraj K. Govindaraj P, et al. Among authors: dhandapany ps. Mitochondrion. 2019 Sep;48:51-59. doi: 10.1016/j.mito.2019.03.003. Epub 2019 Mar 22. Mitochondrion. 2019. PMID: 30910572
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD. Dhandapany PS, et al. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777450 Free PMC article.
35 results