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A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening.
Imran M, Arvinden VR, Mehanathan PB, Rajagopal RE, Muthu SP, Arunachalam AS, Bhoyar RC, Vignesh H, Mitra S, Jha GN, Gupta A, Kumar M, Bhowmick R, Bhunia NS, Dutta AK, Scaria V, Sivasubbu S. Imran M, et al. Among authors: vignesh h. J Appl Lab Med. 2024 Nov 4;9(6):871-885. doi: 10.1093/jalm/jfae089. J Appl Lab Med. 2024. PMID: 39140510
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.
Senthivel V, Jolly B, Vr A, Bajaj A, Bhoyar R, Imran M, Vignesh H, Divakar MK, Sharma G, Rai N, Kumar K, Mp J, Krishna M, Shenthar J, Ali M, Abqari S, Nadri G, Scaria V, Naik N, Sivasubbu S. Senthivel V, et al. Among authors: vignesh h. J Hum Genet. 2024 Sep;69(9):455-465. doi: 10.1038/s10038-024-01265-2. Epub 2024 Jun 18. J Hum Genet. 2024. PMID: 38890497
Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.
Gupta P, Arvinden VR, Thakur P, Bhoyar RC, Saravanakumar V, Gottumukkala NV, Goswami SG, Nafiz M, Iyer AR, Vignesh H, Soni R, Bhargava N, Gunda P, Jain S, Gupta V, Sivasubbu S, Scaria V, Ramalingam S. Gupta P, et al. Among authors: vignesh h. Front Mol Biosci. 2023 Dec 13;10:1244244. doi: 10.3389/fmolb.2023.1244244. eCollection 2023. Front Mol Biosci. 2023. PMID: 38152111 Free PMC article.