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Page 1
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Among authors: rama devi a r. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Neuro-fuzzy model of homocysteine metabolism.
Naushad SM, Rama Devi AR, Nivetha S, Lakshmitha G, Stanley AB, Hussain T, Kutala VK. Naushad SM, et al. Among authors: rama devi ar. J Genet. 2017 Dec;96(6):919-926. doi: 10.1007/s12041-017-0856-x. J Genet. 2017. PMID: 29321350
Newborn screening in India.
Rama Devi AR, Naushad SM. Rama Devi AR, et al. Indian J Pediatr. 2004 Feb;71(2):157-60. doi: 10.1007/BF02723099. Indian J Pediatr. 2004. PMID: 15053381