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

Divya, Pasumarthi and Gupta, N. and Sheth, J. and Jain, J.M.N. and Rungsung, I. and Kabra, M. and Ranganath, Prajnya and Aggarwal, Shagun and Phadke, S.R. and Girisha, K.M. and Shukla, A. and Datar, C. and Verma, I.C. and Puri, R.D. and Bhavsar, R. and Mistry, M. and Sankar, V.H. and Gowrishankar, K. and Agrawal, Divya and Nair, M. and Danda, S. and Soni, J.P. and Dalal, Ashwin (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65 (11). pp. 971-984. ISSN 1434-5161

Ranganath, Prajnya and Sreeja, P. and Nair, Lekshmi and Pramod Kumar, P. and Aparna , Shankar and Sakthivel, M. and Dalal, Ashwin (2020) A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. European Journal of Human Genetics, 28 (5). pp. 669-673. ISSN 1018-4813