Akshi Spolia

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

Swarkar Sharma, E. Rai, M. Dhar, 2020, Frontiers in Genetics.

Missense Variation in TPP1 Gene causes Neuronal Ceroid Lipofuscinosis Type 2 in a Family from Jammu and Kashmir-India

Swarkar Sharma, E. Rai, M. Kumari, 2021 .

A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.

Swarkar Sharma, Varun Sharma, I. Sharma, 2019, Mitochondrion.

Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India

Swarkar Sharma, Varun Sharma, E. Rai, 2023, Scientific reports.