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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: shenthar j. 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: shenthar j. 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
Ventricular tachycardia with regular capture beats.
Mahla H, Shenthar J, Kumar KR, Manjunath CN. Mahla H, et al. Among authors: shenthar j. BMJ Case Rep. 2014 Apr 15;2014:bcr2014204121. doi: 10.1136/bcr-2014-204121. BMJ Case Rep. 2014. PMID: 24810448 Free PMC article. No abstract available.
Mutational analysis of SCN5A gene in long QT syndrome.
Qureshi SF, Ali A, John P, Jadhav AP, Venkateshwari A, Rao H, Jayakrishnan MP, Narasimhan C, Shenthar J, Thangaraj K, Nallari P. Qureshi SF, et al. Among authors: shenthar j. Meta Gene. 2015 Sep 2;6:26-35. doi: 10.1016/j.mgene.2015.07.010. eCollection 2015 Dec. Meta Gene. 2015. PMID: 26401487 Free PMC article.
Genotype-phenotype correlation in long QT syndrome families.
Qureshi SF, Ali A, Venkateshwari A, Rao H, Jayakrishnan MP, Narasimhan C, Shenthar J, Thangaraj K, Nallari P. Qureshi SF, et al. Among authors: shenthar j. Indian Pacing Electrophysiol J. 2015 Dec 17;15(6):269-85. doi: 10.1016/j.ipej.2015.12.001. eCollection 2015 Nov-Dec. Indian Pacing Electrophysiol J. 2015. PMID: 27479201 Free PMC article.
62 results