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BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants.
Vatsyayan A, Anu RI, Mathur P, Uchil D, Joshi A, Dwivedi A, Sirohi B, Mathew A, Damodaran D, Panda SS, Kolluri S, Ayillath SK, Amalnath D, Shankar G, Pandhare K, Scaria V. Vatsyayan A, et al. Among authors: scaria v. Fam Cancer. 2024 Nov 15;24(1):4. doi: 10.1007/s10689-024-00429-5. Fam Cancer. 2024. PMID: 39546087
The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Kumar M, Sharma S, Pandey S, Mammayil G, Pala Kuzhiyil A, Sreesh S, Arakkal R, Radhakrishnan DM, Rajan R, Amalnath D, Gulati R, Tayade N, Sadasivan S, Valsan A, Menon J, Kamate M, Mathur SK, Mahadevan R, Dhingra B, Rajan R, Singh K, Shalimar, Geevarghese SK, Kumar VS, Menachery J, Aliyar A, Bhoyar RC, Jolly B, Jain A, Vittal Rangan A, Moitra T, Mhaske A, Gupta V, Senthivel V, Mishra A, Saini A, Gaharwar U, Sivasubbu S, Scaria V, B K B. Kumar M, et al. Among authors: scaria v. Mov Disord Clin Pract. 2024 Nov 13. doi: 10.1002/mdc3.14266. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 39535360
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: scaria v. 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: scaria v. 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
251 results