MISSION PROGRAM ON PEDIATRIC RARE GENETIC DISORDERS (PRaGeD)

Usha R Dutta, Rajitha Ponnala, Kritika Ramgopal, Divya Bhanu Nalla, Uzair Ahmed, Vijay Kumar Sunke, Ashwin Dalal. A 27-year retrospective analysis of 24,633 cases reveals the spectrum of chromosomal abnormalities in Southern India and identifies a novel translocation disrupting EFCAB3. The Nucleus, June 3, (2026).
Usha R Dutta, Kritika Ramgopal, N Divya Bhanu, Uzair Ahmed, Rajitha Ponnala, Rajani Sirineni, Vasantha Rani S, Ashwin Dalal. Integrative approach for delineating structural variants using optical genome mapping and long-read genome sequencing. Mol Biol Reports 53, 735 (2026)
Usha R Dutta, Rashmi Shukla, Jyotsna Verma, Ashwin Dalal. Quality Issues in Medical Genetics Laboratories: "What a Clinician Needs to Know?" The Indian Journal of Paediatrics, 2026 Apr 17. doi: 10.1007/s12098-026-06097-w.
Rathod S, Balan R, Sravya K, Ranganath P. Alexander Disease Due to a Homozygous GFAP Variant. Indian J Pediatr. 2025 Dec 13. doi: 10.1007/ s12098-025-05889-w. Epub ahead of print. PMID: 41389312. (Impact Factor: 2.0).
Kumar, A., Rai, S., Kumar, A., Dey, C., Chakraborty, S., & Munshi, A. (2026). Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome. Molecular Genetics and Genomics, 301(1), 135. (Impact Factor: 2.2)
Kumar, A., Kumar, A., Dey, C., Wander, A., Chakraborty, S., & Munshi, A. (2026). Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder. Journal of Human Genetics, 1–12. (Impact Factor: 2.1)
PV Ramchander and K. Abhishek, From Years of Uncertainty to Genomic Hope: Mission PraGeD and Rare Disease Care in Odisha. Science Horizon, Odisha Bigyan Academy, Government of Odisha.
Identification and Structural Characterisation of a Novel Mutation in the CNKSR2 Gene Associated with Houge-Type X-Linked Intellectual Developmental Disorder" under the Mission Program on Rare Pediatric Genetic Disorders