Karanvir

45PUBLICATIONS
91CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Genetic immunologyDevelopmental genetics (incl. sex determination)
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Publications (45)

|Aug 10, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|Jun 15, 2026
Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders.

|May 13, 2025
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish.

Amoolya Kandettu, Mayuri Yeole, Hamsini Sekar

|Apr 12, 2025
Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Mangalore S Shravya, Greeshma Purushothama, Periyasamy Radhakrishnan

|Dec 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Prince Jacob, Swati Singh, Gandham SriLakshmi Bhavani

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Frequent Collaborators

30 joint publications

Katta Mohan Girisha

11 joint publications

Dhanya Lakshmi Narayanan

5 joint publications

Siddaramappa J Patil

5 joint publications

Shalini S Nayak