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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.
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
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.
Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.
Kukkle PL, Geetha TS, Chaudhary R, Sathirapongsasuti JF, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Oliver M, Sunil M, Mootor MFE, Kapil S, Mandloi N, Wadia PM, Yadav R, Desai S, Kumar N, Biswas A, Pal PK, Muthane UB, Das SK, Sakthivel Murugan SM, Peterson AS, Stawiski EW, Seshagiri S, Gupta R, Ramprasad VL, Prai PRAOI. Kukkle PL, et al. Among authors: gupta r. Adv Biol (Weinh). 2022 Nov;6(11):e2101326. doi: 10.1002/adbi.202101326. Epub 2022 Jul 10. Adv Biol (Weinh). 2022. PMID: 35810474
Sequencing and analysis of a South Asian-Indian personal genome.
Gupta R, Ratan A, Rajesh C, Chen R, Kim HL, Burhans R, Miller W, Santhosh S, Davuluri RV, Butte AJ, Schuster SC, Seshagiri S, Thomas G. Gupta R, et al. BMC Genomics. 2012 Aug 31;13:440. doi: 10.1186/1471-2164-13-440. BMC Genomics. 2012. PMID: 22938532 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.
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.
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