Publications

1.Madhuri, V., et al., Classical and Atypical Fibrodysplasia Ossificans Progressiva in India. Annals of human genetics, 2015. 79(4): p. 245-252.

2. Mathew SE, Santhanam M, Madhuri V. Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta. JBJS Case Connector. 2015;5(1):e15

3. Ekbote, A.V., et al. A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis. in Seminars in arthritis and rheumatism. 2013. Elsevier.

4. Madhuri, V., et al., Chromosomes 6/7 translocation t (6: 7)(q15; 32) presenting as multiple pterygium syndrome. Indian pediatrics, 2001. 38(2): p. 194-197.

5. Asha HS, Chapla A, Shetty S, Thomas N. Next-Generation Sequencing-Based Genetic Testing For Familial Partial Lipodystrophy. AACE Clinical Case Reports. 2015;1(1):e28-e31.

6. Le Blanc K, Gotherstrom C, Ringden O, Hassan M, McMahon R, Horwitz E, et al. Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation. 2005;79(11):1607-14.

7. Gotherstrom C, Westgren M, Shaw SW, Astrom E, Biswas A, Byers PH, et al. Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. Stem cells translational medicine. 2014;3(2):255-64.

8. MATN3 mutation causing spondyloepimetaphyseal dysplasia Shyamasundar, L. G., Loganathan, L., Kumar, A., Selina, A., & Madhuri, V. (2019). MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.The Indian Journal of Pediatrics.doi:10.1007/s12098-019-03100-5

9. MATN3 mutation causing spondyloepimetaphyseal dysplasia Shyamasundar, L. G., Loganathan, L., Kumar, A., Selina, A., & Madhuri, V. (2019). MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.The Indian Journal of Pediatrics.doi:10.1007/s12098-019-03100-5 

10. VrishaMadhuri, Agnes Selina, Lakshmi Loganathan, Ashis Kumar, Vignesh Kumar, Renita Raymond, Sowmya Ramesh, NimmyVincy, Giftson Joel, Deeptiman James, MadhaviKandagaddala, Antonisamy B. Osteogenesisimperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. Ann Hum Genet .2020 Aug 7.doi: 10.1111/ahg.12403 (IF – 1.529)