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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Guo L, et al. Among authors: bhavani gs. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 Free PMC article.
Novel Mutation in an Indian Patient with Transcobalamin II Deficiency.
Bartakke S, Saindane A, Udgirkar V, Shrividya S, Bhavani GS, Girisha KM. Bartakke S, et al. Among authors: bhavani gs. Indian J Pediatr. 2015 Nov;82(11):1073-4. doi: 10.1007/s12098-015-1770-y. Epub 2015 May 8. Indian J Pediatr. 2015. PMID: 25947267 No abstract available.
Novel and recurrent mutations in WISP3 and an atypical phenotype.
Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Bhavani GS, et al. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988854 No abstract available.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Among authors: bhavani gs. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287
Metatropic Dysplasia with a Novel Mutation in TRPV4.
Narayanan DL, Bhavani GS, Girisha KM, Phadke SR. Narayanan DL, et al. Among authors: bhavani gs. Indian Pediatr. 2016 Aug 8;53(8):735-7. doi: 10.1007/s13312-016-0921-1. Indian Pediatr. 2016. PMID: 27567651 Free article.
The promise of discovering population-specific disease-associated genes in South Asia.
Nakatsuka N, Moorjani P, Rai N, Sarkar B, Tandon A, Patterson N, Bhavani GS, Girisha KM, Mustak MS, Srinivasan S, Kaushik A, Vahab SA, Jagadeesh SM, Satyamoorthy K, Singh L, Reich D, Thangaraj K. Nakatsuka N, et al. Among authors: bhavani gs. Nat Genet. 2017 Sep;49(9):1403-1407. doi: 10.1038/ng.3917. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714977 Free PMC article.
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