Research output per year
Research output per year
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
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
DDD Study, 02-01-2025, In: American Journal of Human Genetics. 112, 1, p. 59-74 16 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Degoutin, M., Angelini, C., Bar, C., El Khedoud, W. A., Barnerias, C., Boulariah-Hadjou, R., Estiar, M. A., Ewenczyk, C., Gan-Or, Z., Lacombe, D., Lefeuvre, C., Majethia, P., Messaoud-Khelifi, M., Narayanan, D. L., Rouleau, G. A., Suchowersky, O., Shukla, A., Guillaud-Bataille, M., Stevanin, G. & Goizet, C., 01-2025, In: European Journal of Neurology. 32, 1, e70025.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects
Werren, E. A., Rodriguez Bey, G., Majethia, P., Kaur, P., Patil, S. J., Kekatpure, M. V., Afenjar, A., Qebibo, L., Burglen, L., Tomoum, H., Demurger, F., Duborg, C., Siddiqui, S., Tsan, Y. C., Abdullah, U., Ali, Z., Saadi, S. M., Baig, S. M., Houlden, H. & Maroofian, R. & 3 others, , 01-12-2024, In: Brain. 147, 12, p. 4033-4042 10 p.Research output: Contribution to journal › Article › peer-review
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Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium
Sainulabdin, G., Kanvinde, P., Khurana, R., Mudaliar, S., Vasudeva Bhat, K., Shukla, A., Krishnan, V. P. & Krishnan, Y., 2024, (Accepted/In press) In: Indian Journal of Medical and Paediatric Oncology.Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome
Yeole, M., Majethia, P., Siddiqui, S., Girisha, K., Shukla, A., Radhakrishnan, P. & Bhat, V., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A. 197, 2, e63892.Research output: Contribution to journal › Article › peer-review