R. Kumari

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse‐Sakati syndrome.

Babylakshmi Muthusamy, P. Pal, N. Kamble, 2022, Journal of neuroendocrinology.

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort

Babylakshmi Muthusamy, P. Pal, N. Kamble, 2023, Journal of movement disorders.

Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum

Babylakshmi Muthusamy, P. Pal, N. Kamble, 2023, Journal of movement disorders.

Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India.

Babylakshmi Muthusamy, P. Pal, N. Kamble, 2024, Parkinsonism & related disorders.

Loss of function variants in L2HGDH gene causing l-2-hydroxyglutaric aciduria

Babylakshmi Muthusamy, P. Pal, N. Kamble, 2023, Acta Neurologica Belgica.