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Page 1
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM. Jacob P, et al. Among authors: bhavani gs. Eur J Hum Genet. 2024 Dec 20. doi: 10.1038/s41431-024-01776-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39706863
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.
Singh S, Danda S, Sharma N, Shah H, Madhuri V, Mir TA, Padala NZ, Medishetti R, Ekbote A, Bhavani GS, Sevilimedu A, Girisha KM. Singh S, et al. Among authors: bhavani gs. Eur J Hum Genet. 2025 Jan;33(1):30-37. doi: 10.1038/s41431-024-01725-5. Epub 2024 Nov 6. Eur J Hum Genet. 2025. PMID: 39506047 Free PMC article.
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM. Singh S, et al. Among authors: bhavani gs. Am J Med Genet A. 2024 Aug;194(8):e63601. doi: 10.1002/ajmg.a.63601. Epub 2024 Apr 2. Am J Med Genet A. 2024. PMID: 38562122 Free PMC article.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Among authors: bhavani gs. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. Eur J Hum Genet. 2024. PMID: 38114583 Free PMC article.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: bhavani gs. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
62 results