Author

Nikhil Ratna

National Institute of Mental Health and NeurosciencesORCID 0000-0002-0094-1236Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Biju ViswanathiD· 3 shared Meera PurushottamiD· 3 shared Sanjeev JainiD· 3 shared Geetanjali MurariiD· 2 shared Mathew VargheseiD· 2 shared Nitish L. KambleiD· 2 shared Pramod Kumar PaliD· 2 shared Ravi YadaviD· 2 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersNeuroscience

Biju ViswanathORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 3, 2025

Allelic Diversity, de novo CAG Expansions, and Intergenerational Instability at the HTT Locus in a clinical sample of Huntingtons Disease from India

Nikhil Ratna, Sowmya Devatha Venkatesh, Swathi Pasupulati…·Meera Purushottam

The paper analyzes allelic diversity and CAG repeat instability in HD patients from India, finding a strong inverse correlation between repeat length and age at onset, and reporting de novo expansions.

DOI 10.1101/2025.03.03.21260193

humanstatistical model

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NeurosciencebioRxivPreprintDec 31, 2020

Distribution of Huntington's disease Haplogroups in Indian population

Sowmya Devatha Venkatesh, Nikhil Ratna, Swathi Lakshmi P.…·Meera Purushottam

The paper examines haplogroups at the HTT locus in an Indian population, finding significant genotype frequency differences between HD cases and controls, with Haplogroup A being predominant.

DOI 10.1101/2020.12.31.424975

humanstatistical model

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NeuroscienceHuman GenomicsPeer-reviewedOct 22, 2019

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

Ravi Kumar Nadella, Anirudh S. Chellappa, Anand G. Subramaniam…·Ramakrishnan Kannan

The paper identifies two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome patients and shows their functional impact on Kir4.1 channel activity.

11 citations

humanwhole-exome sequencing

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