MISSION PROGRAM ON PEDIATRIC RARE GENETIC DISORDERS (PRaGeD)

  1. Moirangthem A, Kar A, Sagar M, Das N, Maurya RK, Dhakad A, Kaur R, Dalal A. A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7. Clin Genet. 2025 Apr 5. doi:10.1111/cge.14748. Epub ahead of print. PMID: 40186457.
  2. Motwani P, Maurya RK, Dhwoni, Phadke SR, Moirangthem A. Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective. Am J Med Genet A. 2025 Dec;197(12):e64199. doi: 10.1002/ajmg.a.64199. Epub 2025 Aug 5. PMID: 40762361. Impact factor: 1.7 (2024-2025)
  3. Tyagi S, Arora A, Ranganath P, Dalal A. CEP72 Emerges as a Key Centriolar Satellite Protein in Health and Disease. Cytoskeleton (Hoboken). 2025 Nov;82(11):737-746. doi: 10.1002/cm.22030. Epub 2025 Apr 18. PMID: 40248994.
  4. Ajay Kumar, Anil Kumar, Seema Rai, Anu Arora, Arvinder Wander, Anjana Munshi. Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development. Archives of Sexual Behavior. (2025) DOI: 10.1007/s10508-025-03197-0
  5. Swathi Chodisetty#, Aditi Arora#, Kausika Kumar Malik, Himanshu Goel, andShweta Tyagi* (2024). MLL/WDR5 complex recruits centriolar satellite protein Cep72 to regulate microtubule nucleation and spindle formation. Science Advances, Vol 10, Issue 50 doi: 10.1126/sciadv.adn0086 PMCID: PMC11633745 # contributed equally.
  6. Aggarwal S, Vineeth VS, Padwal SS, Bhat SA, Singh A, Kulkarni A, Patil M, Tallapaka K, Pasumarthi D, Venkatapuram V, Thotakura PL, Dalal A, Bhandari R. SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Clin Genet. 2024 Jun 3. doi: 10.1111/cge.14564.
  7. Rare genetic diseases in India:Steps toward a nationwide mission Program. Anjana Kar, Sundaravadivel P, Ashwin Dalal. J Biosci (2024)49:34.
  8. A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion. Accepted publication in American Journal of Medical Genetics. 2024
  9. Not so rare after all, Neeraja Chilukoti and Ashwin Dalal. 2024. TATA Trusts Horizon. Page 67-70