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Actionable Activating Oncogenic ERBB2/HER2 Transmembrane and Juxtamembrane Domain Mutations.
Pahuja KB, Nguyen TT, Jaiswal BS, Prabhash K, Thaker TM, Senger K, Chaudhuri S, Kljavin NM, Antony A, Phalke S, Kumar P, Mravic M, Stawiski EW, Vargas D, Durinck S, Gupta R, Khanna-Gupta A, Trabucco SE, Sokol ES, Hartmaier RJ, Singh A, Chougule A, Trivedi V, Dutt A, Patil V, Joshi A, Noronha V, Ziai J, Banavali SD, Ramprasad V, DeGrado WF, Bueno R, Jura N, Seshagiri S. Pahuja KB, et al. Among authors: gupta r. Cancer Cell. 2018 Nov 12;34(5):792-806.e5. doi: 10.1016/j.ccell.2018.09.010. Epub 2018 Oct 25. Cancer Cell. 2018. PMID: 30449325 Free PMC article.
Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations.
Bueno R, Stawiski EW, Goldstein LD, Durinck S, De Rienzo A, Modrusan Z, Gnad F, Nguyen TT, Jaiswal BS, Chirieac LR, Sciaranghella D, Dao N, Gustafson CE, Munir KJ, Hackney JA, Chaudhuri A, Gupta R, Guillory J, Toy K, Ha C, Chen YJ, Stinson J, Chaudhuri S, Zhang N, Wu TD, Sugarbaker DJ, de Sauvage FJ, Richards WG, Seshagiri S. Bueno R, et al. Among authors: gupta r. Nat Genet. 2016 Apr;48(4):407-16. doi: 10.1038/ng.3520. Epub 2016 Feb 29. Nat Genet. 2016. PMID: 26928227
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Mohan V, Radha V, Nguyen TT, Stawiski EW, Pahuja KB, Goldstein LD, Tom J, Anjana RM, Kong-Beltran M, Bhangale T, Jahnavi S, Chandni R, Gayathri V, George P, Zhang N, Murugan S, Phalke S, Chaudhuri S, Gupta R, Zhang J, Santhosh S, Stinson J, Modrusan Z, Ramprasad VL, Seshagiri S, Peterson AS. Mohan V, et al. Among authors: gupta r. BMC Med Genet. 2018 Feb 13;19(1):22. doi: 10.1186/s12881-018-0528-6. BMC Med Genet. 2018. PMID: 29439679 Free PMC article.
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
Ahamed H, Balegadde AV, Menon S, Menon R, Ramachandran A, Mathew N, Natarajan KU, Nair IR, Kannan R, Shankar M, Mathew OK, Nguyen TT, Gupta R, Stawiski EW, Ramprasad VL, Seshagiri S, Phalke S. Ahamed H, et al. Among authors: gupta r. Sci Rep. 2020 Nov 26;10(1):20610. doi: 10.1038/s41598-020-77124-9. Sci Rep. 2020. PMID: 33244021 Free PMC article.
Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2.
Suryamohan K, Diwanji D, Stawiski EW, Gupta R, Miersch S, Liu J, Chen C, Jiang YP, Fellouse FA, Sathirapongsasuti JF, Albers PK, Deepak T, Saberianfar R, Ratan A, Washburn G, Mis M, Santhosh D, Somasekar S, Hiranjith GH, Vargas D, Mohan S, Phalke S, Kuriakose B, Antony A, Ustav M Jr, Schuster SC, Sidhu S, Junutula JR, Jura N, Seshagiri S. Suryamohan K, et al. Among authors: gupta r. Commun Biol. 2021 Apr 12;4(1):475. doi: 10.1038/s42003-021-02030-3. Commun Biol. 2021. PMID: 33846513 Free PMC article.
Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H. Muthusamy B, et al. Among authors: gupta r. OMICS. 2017 May;21(5):295-303. doi: 10.1089/omi.2017.0009. OMICS. 2017. PMID: 28481730 Free PMC article.
A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.
Majumder S, Shah R, Elias J, Mistry Y, Coral K, Shah P, Maurya AK, Mittal B, D'Silva JK, Murugan S, Mahadevan L, Sathian R, Ramprasad VL, Chakraborty P, Gupta R, Chaudhuri A, Khanna-Gupta A. Majumder S, et al. Among authors: gupta r. PLoS One. 2018 Sep 26;13(9):e0203845. doi: 10.1371/journal.pone.0203845. eCollection 2018. PLoS One. 2018. PMID: 30256815 Free PMC article.
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