Shubha Rajendra Phadke - Genetic Mutations

Author Information

Dr. Shubha Rajendra Phadke is a distinguished researcher affiliated with the Department of Medical Genetics at Sanjay Gandhi Postgraduate Institute of Medical Sciences, located in Lucknow, Uttar Pradesh, India. Her extensive research focuses on various aspects of medical genetics, contributing significantly to our understanding of genetic disorders and their management.

Research Contributions

Dr. Shubha Rajendra Phadke has made substantial contributions to the field of genetics through her extensive research on a variety of genetic disorders. Some of her notable works include the analysis of copy number variation in rare case scenarios, the genotype-phenotype spectrum of Mucopolysaccharidosis type II, and the characterization of novel genetic variants in conditions such as spinocerebellar ataxia and monosomy 1p36. Her research is also focused on congenital hyperinsulinemia, systemic auto-inflammatory diseases, homocystinuria, pycnodysostosis, hemophilia B, and acid sphingomyelinase deficiency. These contributions have provided valuable insights into the molecular mechanisms, diagnosis, and management of these genetic conditions, particularly within the Indian population.

Aliases

Dr. Phadke is also known by several aliases including S R Phadke, Shubha Phadke, S Phadke, S. R. Phadke, S.r. Phadke, Shubha R. Phadke, and Shubha R Phadke.

Publication and Citation Metrics

Metric Value
Total Citation Count 3692
H-Index 28
Total Paper Count 358

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