• 524 Citations
  • 14 h-Index
20122020

Research output per year

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Personal profile

Research Interests

Genetics

External positions

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Research Output

  • 524 Citations
  • 14 h-Index
  • 79 Article
  • 7 Letter
  • 4 Comment/debate
  • 1 Review article

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-04-2020, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

  • Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

    Girisha, K. M., Bhavani, G. S., Shah, H., Moirangthem, A., Shukla, A., Kim, O. H., Nishimura, G. & Mortier, G. R., 01-02-2020, In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

    Narayanan, D. L., Purushothama, G., Bhavani, G. S. L. & Shukla, A., 01-01-2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

    Somashekar, P. H., Upadhyai, P., Shula, A. & Girisha, K. M., 01-03-2020, In : Gene. 144229.

    Research output: Contribution to journalArticle