Article

Girisha, K.M. and Kortüm, F. and Shah, H. and Alawi, M. and Dalal, Ashwin and Bhavani, G.S. and Kutsche, K. (2016) A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics, 24 (8). pp. 1206-1210. ISSN 1018-4813

Bhavani, G.S. and Shah, H. and Shukla, A. and Gupta, N. and Gowrishankar, K. and Rao, A.P. and Kabra, M. and Agarwal, M. and Ranganath, P. and Ekbote, A.V. and Phadke, S.R. and Kamath, A. and Dalal, Ashwin and Girisha, K.M. (2016) Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. American Journal of Medical Genetics Part A, 170 (2). pp. 410-417. ISSN 1552-4825

Bhavani, G.S. and Shah, H. and Dalal, Ashwin and Shukla, A. and Danda, S. and Aggarwal, Shagun and Phadke, S.R. and Gupta, N. and Kabra, M. and Gowrishankar, K. and Gupta, A. and Bhat, M. and Puri, R.D. and Bijarnia-Mahay, S. and Nampoothiri, S. and Mohanasundaram, K.M. and Rajeswari, S. and Kulkarni, A.M. and Kulkarni, M.L. and Ranganath, P. and Radha Rama Devi, A. and Hariharan, S.V. and Girisha, K.M. (2015) Novel and recurrent mutations inWISP3and an atypical phenotype. American Journal of Medical Genetics Part A, 167 (10). pp. 2481-2484. ISSN 1552-4825

Bidchol, A.M. and Dalal, Ashwin and Trivedi, R. and Shukla, A. and Nampoothiri, S. and Sankar, V.H. and Danda, S. and Gupta, N. and Kabra, M. and Hebbar, S.A. and Bhat, R.Y. and Matta, D. and Ekbote, A.V. and Puri, R.D. and Phadke, S.R. and Gowrishankar, K. and Aggarwal, Shagun and Ranganath, P. and Sharda, S. and Kamate, M. and Datar, C.A. and Bhat, K. and Kamath, N. and Shah, H. and Krishna, S. and Gopinath, P.M. and Verma, I.C. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2015) Recurrent and novel GLB1 mutations in India. Gene, 567 (2). pp. 173-181. ISSN 0378-1119

Stephen, J. and Girisha, K.M. and Dalal, Ashwin and Shukla, A. and Shah, H. and Srivastava, P. and Kornak, U. and Phadke, S.R. (2015) Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. European Journal of Medical Genetics, 58 (1). pp. 21-27. ISSN 1878-0849

Bidchol, A.M. and Dalal, Ashwin and Shah, H. and Suryanarayana, S. and Nampoothiri, S. and Kabra, M. and Gupta, N. and Danda, S. and Gowrishankar, K. and Phadke, S.R. and Kapoor, S. and Kamate, M. and Verma, I.C. and Puri, R.D. and Sankar, V.H. and Radha Rama Devi, A. and Patil, S.J. and Ranganath, P. and Jain, S.J.M.N. and Agarwal, Meenal and Singh, Ankur and Mishra, P. and Tamhankar, P.M. and Gopinath, P.M. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part A, 164A (11). pp. 2793-2801. ISSN 1552-4833

Stephen, J. and Shukla, A. and Dalal, Ashwin and Girisha, K.M. and Shah, H. and Gupta, N. and Kabra, M. and Dabadghao, P. and Phadke, S.R. (2014) Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. American Journal of Medical Genetics. Part A, 164A (6). pp. 1482-1489. ISSN 1552-4833

Dalal, Ashwin and Bhavani, G.S. and Padma Priya, T. and Bierhals, T. and Nandineni, M.R. and Danda, S.R. and Danda, D. and Shah, H. and Vijayan, S. and Gowrishankar, K. and Phadke, S.R. and Bidchol, A.M. and Rao, A.P. and Nampoothiri, S. and Kutsche, K. and Girisha, K.M. (2012) Analysis of theWISP3gene in Indian families with progressive pseudorheumatoid dysplasia. American Journal of Medical Genetics Part A, 158A (11). pp. 2820-2828. ISSN 1552-4825