All Stories

  1. Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy

    Article • Journal of Personalized Medicine, March 2023, MDPI AG

    Samya Chakravorty

  2. Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

    Article • Annals of Clinical and Translational Neurology, October 2020, Wiley

    Samya Chakravorty

  3. Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin

    Article • Scientific Reports, September 2020, Springer Science + Business Media

    Samya Chakravorty

  4. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Article • Science, September 2020, American Association for the Advancement of Science

    Samya Chakravorty, Dr David Ross Darley, Professor Lorenzo Piemonti

  5. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Article • Science, September 2020, American Association for the Advancement of Science

    Samya Chakravorty, Dr David Ross Darley, Eric Hoste

  6. Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

    Article • September 2020, Cold Spring Harbor Laboratory Press

    Samya Chakravorty

  7. Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion

    Article • Muscle & Nerve, April 2019, Wiley

    Samya Chakravorty

  8. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

    Article • Annals of Clinical and Translational Neurology, December 2018, Wiley

    Samya Chakravorty

  9. Inferring the effect of genomic variation in the new era of genomics

    Article • Human Mutation, April 2018, Wiley

    Samya Chakravorty

  10. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

    Article • PLOS One, March 2018, PLOS

    Samya Chakravorty

  11. Clinical RNA sequencing for better diagnosis of genetic diseases

    Article • Clinical Chemistry, November 2017, AACC

    Samya Chakravorty

  12. Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

    Article • Annual Review of Genomics and Human Genetics, August 2017, Annual Reviews

    Samya Chakravorty

  13. Flightin maintains myofilament lattice organization required for optimal flight power and courtship song quality in Drosophila

    Article • Proceedings of the Royal Society B Biological Sciences, May 2017, Royal Society Publishing

    Samya Chakravorty

  14. Phosphorylation of the regulatory light chain of myosin in striated muscle: methodological perspectives

    Article • European Biophysics Journal, April 2016, Springer Science + Business Media

    Samya Chakravorty

  15. Mutations of the Drosophila Myosin Regulatory Light Chain Affect Courtship Song and Reduce Reproductive Success

    Article • PLOS One, February 2014, PLOS

    Samya Chakravorty

  16. Courtship song analysis of Drosophila muscle mutants

    Article • Methods, January 2012, Elsevier

    Samya Chakravorty

  17. Amplification of Orthologous Genes Using Degenerate Primers

    Article • January 2010, Springer Science + Business Media

    Samya Chakravorty