Author

Shubha Rajendra Phadke

Sanjay Gandhi Post Graduate Institute of Medical SciencesORCID 0000-0002-6624-082XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aneek Das BhowmikiD· 1 shared Anjana Kar· 1 shared Ashwin Bhikaji DalaliD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetics

Aneek Das BhowmikORCID

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1 paper

Recent·Most cited

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis and polydactyly

Anjana Kar, Shubha Rajendra Phadke, Aneek Das Bhowmik, Ashwin Bhikaji Dalal

The paper identifies a synonymous mutation in ARMC9 causing syndromic intellectual disability, ptosis, and polydactyly through homozygosity mapping and exome sequencing.

American Journal of Medical Genetics Part A · Nov 21, 2017Peer-reviewedGenetics