Author

Divya Pasumarthi

Institution: Centre for DNA Fingerprinting and Diagnostics

Observed institutions: Nizam's Institute of Medical Sciences, Centre for DNA Fingerprinting and Diagnostics

OpenAlex ID: A5086520249

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

2020 · Divya Pasumarthi, Neerja Gupta, et al. · Journal of Human Genetics · 9

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

2023 · Divya Pasumarthi, Priya Ranganath, et al. · International Journal of Microbiology Research · 3

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

2016 · Anusha Uttarilli, Divya Pasumarthi, et al. · Gene · 3

SERPINA11 related novel serpinopathy – A perinatal lethal disorder

2024 · Shagun Aggarwal, Venugopal Satidevi Vineeth, et al. · Clinical Genetics · 2

Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops

2019 · Amrita Bhattacherjee, Prajnya Ranganath, et al. · Gene Reports · 1

2024 · Shagun Aggarwal, Venugopal Satidevi Vineeth, et al. · Clinical Genetics

Author response for "SERPINA11 related novel serpinopathy – A perinatal lethal disorder"

2024 · Shagun Aggarwal, Venugopal Satidevi Vineeth, et al.

Works count: 7

Citation count: 18

H-index: 3

I10-index: