Personal profile
Research Interests
Neurodevelopmental disorders, Mendelian diseases, rare genetic disorders, leukodystrophies, gene discovery
Professional Information
Professor and Head
Department of Medical Genetics
Kasturba Medical College and Hospital
Awards and recognition:
i. Dr S S Agarwal Young Scientist Award, 2014
ii. Start-up grant for Young Scientists, Department of Science and Technology, Government of India
iii. International Travel Support from Department of Science and Technology, Government of India for attending 64th Annual Meeting of the American Society of Human Genetics, San Diego, CA, USA in October, 2014
Experience
• Professor of Medical Genetics, Kasturba Medical College, Manipal from 2019 to till date.
• Associate Professor at Kasturba Medical College, Manipal from 2016 to 2019
• Assistant Professor at Kasturba Medical College, Manipal from 2014 to 2016
• Senior Resident at Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow from 2010 to 2013
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Collaborations and top research areas from the last five years
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A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5
Kaur, N., Shirsat, K., Bhat, V., Yeole, M., Farooqui, S., Limaye, S., Radhakrishnan, P., Siddiqui, S., Narayanan, D. L., Shenoy, R. & Shukla, A., 12-2026, In: Neurogenetics. 27, 1, 15.Research output: Contribution to journal › Article › peer-review
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Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI
Badiger, V. A., Nampoothiri, S., Vangara, M. M., Majethia, P., Girisha, K. M., Radhakrishnan, P. & Shukla, A., 04-2026, In: American Journal of Medical Genetics, Part A. 200, 4, p. 966-970 5 p.Research output: Contribution to journal › Article › peer-review
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Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiology
Tavasoli, M., Alkandari, M., Dorighello, G., McPhee, M., Ridgway, N. D., Isaac, K., Sokolenko, S., Maroofian, R., Shukla, A., Zaki, M. S., Houlden, H. & McMaster, C. R., 01-2026, In: Journal of Biological Chemistry. 302, 1, 110983.Research output: Contribution to journal › Article › peer-review
Open Access -
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy
Murphy, M. R., Ganapathi, M., Rotlevi, E. R., Lee, T. M., Fisher, J. M., Patel, M. V., Jayakar, P., Buchanan, A., Rippert, A. L., Ahrens-Nicklas, R. C., Nair, D., Nayak, S. S., Anand, A., Shukla, A., Soni, R. K., Yin, Y., Yang, F., Garcia, E. J., Reilly, M. P. & Chung, W. K. & 1 others, , 01-2026, In: Nature Cardiovascular Research. 5, 1, p. 51-66 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome
Shravya, M. S., Purushothama, G., Radhakrishnan, P., Hebbar, M., Guruvare, S., Mathew, M., Bhavani, G. S. L., Bajaj, S., Girisha, K. M., Shukla, A. & Nayak, S. S., 08-2025, In: American Journal of Medical Genetics, Part A. 197, 8, e64086.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Citations (Scopus)