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Author

K. Mandal

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2 papers indexed here

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Open access Sep 2026

Tiered genetic testing reveals CACNA1A allelic series and RNA modeling elucidates repeat expansion mechanism in an Indian spinocerebellar ataxias cohort

Spinocerebellar ataxias (SCAs) represent a heterogeneous group of neurodegenerative disorders with significant diagnostic challenges, particularly in genetically underrepresented populations. While tiered genetic testing approaches have been previously applied in Indian cohorts, diagnostic gaps persist with appro...

Pooja Ghugtyal, Bhaskar Pant, Anshika Srivastava et al. · 0 citations
Open access Aug 2026

EP215 - ECE_3036 - From symptoms to sequencing: a case of hypophosphatemic osteomalacia with a novel genetic variant

This case describes a novel GATM variant in a patient with hypophosphatemic osteomalacia, which underscores the importance of thorough evaluation for early diagnosis and targeted management to achieve better outcomes.

Smritimayee Panda, Pragya Kafley, Vaibhav Singhal et al. · 0 citations

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