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BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. Srivastava S, et al. Among authors: gupta s. Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Am J Med Genet A. 2016. PMID: 27282546 Free PMC article. Review.
De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA. Torkamani A, et al. Among authors: gupta s. Ann Neurol. 2014 Oct;76(4):529-540. doi: 10.1002/ana.24263. Epub 2014 Sep 19. Ann Neurol. 2014. PMID: 25164438 Free PMC article.
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S. Srivastava S, et al. Among authors: gupta s. Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153216 Free PMC article.
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
Crosson J, Srivastava S, Bibat GM, Gupta S, Kantipuly A, Smith-Hicks C, Myers SM, Sanyal A, Yenokyan G, Brenner J, Naidu SR. Crosson J, et al. Among authors: gupta s. Am J Med Genet A. 2017 Jun;173(6):1495-1501. doi: 10.1002/ajmg.a.38191. Epub 2017 Apr 10. Am J Med Genet A. 2017. PMID: 28394409 Free PMC article.
Randomized open-label trial of dextromethorphan in Rett syndrome.
Smith-Hicks CL, Gupta S, Ewen JB, Hong M, Kratz L, Kelley R, Tierney E, Vaurio R, Bibat G, Sanyal A, Yenokyan G, Brereton N, Johnston MV, Naidu S. Smith-Hicks CL, et al. Among authors: gupta s. Neurology. 2017 Oct 17;89(16):1684-1690. doi: 10.1212/WNL.0000000000004515. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931647 Free PMC article. Clinical Trial.
Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2-heterozygous mouse model of Rett syndrome.
Khoury ES, Patel RV, O'Ferrall C, Fowler A, Sah N, Sharma A, Gupta S, Scafidi S, Kurtz JS, Olmstead SJ, Kudchadkar SR, Kannan RM, Blue ME, Kannan S. Khoury ES, et al. Among authors: gupta s. J Neurochem. 2024 May;168(5):841-854. doi: 10.1111/jnc.15960. Epub 2023 Sep 30. J Neurochem. 2024. PMID: 37777475
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