Babylakshmi Muthusamy

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Venues

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

BMC medical genetics

Acta neurologica Belgica

Journal of neuroendocrinology

Institute of Bioinformatics

Pondicherry University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Institute of Bioinformatics May 1o 2002

India

Research Scientist

Education History

Pondicherry University Jun 1o 2010 - Feb 23o 2016

India

PHD :: Bioinformatics

Publications

Prashant Phulpagar, Vikram V Holla, Deepti Tomar, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal, Babylakshmi Muthusamy
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17. Journal of human genetics (2023)
Anikha Bellad, Vikram V Holla, Riyanka Kumari, Nitish Kamble, Ravi Yadav, Akhilesh Pandey, Pramod Kumar Pal, Babylakshmi Muthusamy
Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. Acta neurologica Belgica (2023)
Harshit Khurana, Babylakshmi Muthusamy, Uday Yanamandra, Kishore Garapati, Harikrishnan Premdeep, Shankar Subramanian, Akhilesh Pandey
Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis. Omics : a journal of integrative biology (2023)
Pooja Pravinbabu, Vikram V Holla, Prashant Phulpagar, Nitish Kamble, Manjunath Netravathi, Ravi Yadav, Pramod Kumar Pal, Babylakshmi Muthusamy
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 43 (7) (2022)
Riyanka Kumari, Vikram Venkappayya Holla, Prashant Phulpagar, Neeharika Sriram, Aditya G Hegde, Seena Vengalil, Nitish Kamble, Jitender Saini, Ravi Yadav, Pramod Kumar Pal, Babylakshmi Muthusamy
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome. Journal of neuroendocrinology 34 (10) (2022)
Anikha Bellad, Satish Chandra Girimaji, Babylakshmi Muthusamy
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 42 (12) (2021)
Anikha Bellad, Aravind K Bandari, Akhilesh Pandey, Satish Chandra Girimaji, Babylakshmi Muthusamy
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome. Journal of molecular neuroscience : MN 70 (9) (2020)
Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji, Babylakshmi Muthusamy
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature. BMC medical genetics 21 (1) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Babylakshmi Muthusamy