Publications

Key publications

1. Mitra S, Ghosh T, Mishra AK, Sanga S, Maulik M, Acharya M. Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure. bioRxiv. Published online 2025. doi:10.1101/2025.10.14.682287 

2. Chakraborty, S., Mitra, S., Ghosh, A., Kumar, K., Sanga, S., et al. Whole exome sequencing reveals novel and rare variants in non-syndromic hearing loss-related genes: A focus on GPSM2 compound heterozygosity. J Biosci 50, 35 (2025). https://doi.org/10.1007/s12038-025-00532-4

3. Sanga S*, Chakraborty S*, Bardhan M, Polavarapu K, Preethish-Kumar V, Bhattacharya C, Nashi S, Vengalil S, Geetha ST, Ramprasad V, Nalini A, Basu A, Acharya M. Identification of a shared, common haplotype segregating with an SGCB c.544T>G mutation in Indian patients affected with sarcoglycanopathy. Sci Rep. 2023 Sep 12;13(1):15095. Doi: 10.1038/s41598-023-41487-6

4. Manjunath V, Thenral SG, Lakshmi BR, Nalini A, Bassi A, Karthikeyan KP, Piyusha K, Menon R, Malhotra A, Praveena LS, Anjanappa RM, Murugan SMS, Polavarapu K, Bardhan M, Preethish-Kumar V, Vengalil S, Nashi S, Sanga S, Acharya M, Raju R, Pai VR, Ramprasad V, Gupta R. Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene. Oetting W, editor. Hum Mutat. 2023. Doi: doi.org/10.1155/2023/4362273

5. Bardhan M, Ram Murthy A, Kiran P, Veeramani PK, Seena V, Saraswati N, Sanga S, Padmanabh H, Valasani RK, Nishadham V, Keerthipriya M, Geetha TS, Ramprasad V, Arunachal G, Thomas PT, Acharya M, Nalini A. Clinical, Genetic profile and disease progression of Sarcoglycanopathies in a large cohort from India: High prevalence of SGCB c.544A>C. Neurogenetics 2022 July;23(3):187–202. Doi: 10.1007/s10048-022-00690-9

6. Sanga S, Ghosh A, Kumar K, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Bardhan M, Arunachal G, Raju S, Gayathri N, Biswas NK, Chakrabarti S, Nalini A, Roy S, Acharya M. Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations. Eur J Neurol. 2021 Mar;28(3):992–1003. Doi: 10.1111/ene.14616