Whole Exome Analyses of Congenital Muscular Dystrophy and Congenital Myopathy Patients from India Reveal a Wide Spectrum of Known and Novel Mutations S Sanga, A Ghosh, K Kumar, K Polavarapu, VP Kumar, S Vengalil, ... European Journal of Neurology, 2020 | 9 | 2020 |
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C M Bardhan, RM Anjanappa, K Polavarapu, V Preethish-Kumar, S Vengalil, ... neurogenetics 23 (3), 187-202, 2022 | 4 | 2022 |
A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations S Chakraborty, S Mitra, A Ghosh, K Kumar, S Sanga, AK Dutta, ... | | 2023 |
Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb‐Girdle Muscular Dystrophy with p. Thr182Pro Variant in SGCB Gene V Manjunath, SG Thenral, BR Lakshmi, A Nalini, A Bassi, KP Karthikeyan, ... Human Mutation 2023 (1), 4362273, 2023 | | 2023 |
P142: Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations S Chakraborty, S Mitra, S Sanga, A Ghosh, S Mukherjee, N Biswas, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
eP394: Investigation and functional characterization of genomic signatures in congenital muscular dystrophy and congenital myopathy patients from India S Sanga, N Biswas, A Nalini, S Roy, M Acharya Genetics in Medicine 24 (3), S247-S248, 2022 | | 2022 |