Article

Nampoothiri, S. and Yesodharan, D. and Bhattacherjee, Amrita and Ahamed, H. and Puri, R.D. and Gupta, N. and Kabra, M. and Ranganath, Prajnya and Bhat, M. and Phadke, S.R. and Radha Rama Devi, A. and Jagadeesh, S. and Danda, S. and Sylaja, P.N. and Mandal, K. and Bijarnia‐Mahay, S. and Makkar, R. and Verma, I.C. and Dalal, Ashwin and Ramaswami, U. (2020) Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Reports, 56 (1). pp. 82-94. ISSN 2192-8312

Sheth, J. and Bhavsar, R. and Mistri, M. and Pancholi, D. and Bavdekar, A. and Dalal, Ashwin and Ranganath, P. and Girisha, K.M. and Shukla, A. and Phadke, S.R. and Puri, R. and Panigrahi, I. and Kaur, A. and Muranjan, M. and Goyal, M. and Radha Ramadevi, A. and Shah, R. and Nampoothiri, S. and Danda, S. and Datar, C. and Kapoor, S. and Bhatwadekar, S. and Sheth, F. (2019) Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Medical Genetics, 20 (1). p. 31. ISSN 1471-2350

Mistri, M.A. and Dalal, Ashwin and Nath, P. and Nampoothiri, S. and Mehta, S. and Singh, A. and Sheth, F. and Sheth, J. (2018) Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening. Molecular Genetics and Metabolism, 123 (2). s96. ISSN 1096-7192

Uttarilli, Anusha and Ranganath, P. and Matta, D. and Jain, J.M.N. and Krishnaprasad, C. and Sobhan Babu, A. and Girisha, K.M. and Verma, I.C. and Phadke, S.R. and Mandal, K. and Puri, R.D. and Aggarwal, Shagun and Danda, S. and Sankar, V.H. and Kapoor, S. and Bhat, M. and Gowrishankar, K. and Hasan, A.Q. and Nair, M. and Nampoothiri, S. and Dalal, Ashwin (2016) Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clinical Genetics, 90 (6). pp. 496-508. ISSN 0009-9163

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

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

Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Ranganath, P. and Dalal, Ashwin and Bashyam, L. and Gupta, N. and Kabra, M. and Muranjan, M. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Kadandale, J.S. (2014) Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. Journal of Cellular Biochemistry, 115 (3). pp. 566-74. ISSN 1097-4644

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

Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Radha Rama Devi, A. and Savithri, G.R. and Ratheesh, R. and Bashyam, L. and Mahesh, E. and Sen, D. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Vaidyanathan, S. and Chandrashekar, M.D. and Prameela, K. (2010) Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA. Molecular Genetics and Metabolism, 100 (1). pp. 96-99. ISSN 1096-7192