Suma Shankar

Associate Professor

  • 966 Citations
  • 16 h-Index
20052019
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  • 1 Similar Profiles
Fabry Disease Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Retinal Dystrophies Medicine & Life Sciences
Genes Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Retinitis Pigmentosa Medicine & Life Sciences

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Research Output 2005 2019

  • 966 Citations
  • 16 h-Index
  • 38 Article
  • 2 Chapter
  • 2 Review article
  • 1 Letter
1 Citation (Scopus)

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India

Sachdeva, A., Jain, P., Gunasekaran, V., Mahay, S. B., Mukherjee, S., Hagerman, R. J., Shankar, S., Kapoor, S. & Kedia, S. N., Mar 1 2019, In : Indian Pediatrics. 56, 3, p. 221-228 8 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
India
Consensus
Pediatrics
Guidelines

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp, K. W., Morse, L. A., Axelrad, M., Chatfield, K. C., Chidekel, A., Dobyns, W., Doyle, D., Kerr, B., Lin, A. E., Schwartz, D. D., Sibbles, B. J., Siegel, D., Shankar, S., Stevenson, D. A., Thacker, M. M., Weaver, K. N., White, S. M. & Rauen, K. A., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Costello Syndrome
Genotype
Guidelines
Phenotype
Medical Practice Management

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

Rauen, K. A., Alsaegh, A., Ben-Shachar, S., Berman, Y., Blakeley, J., Cordeiro, I., Elgersma, Y., Evans, D. G., Fisher, M. J., Frayling, I. M., George, J., Huson, S. M., Kerr, B., Khire, U., Korf, B., Legius, E., Messiaen, L., van Minkelen, R., Nampoothiri, S., Ngeow, J. & 15 others, Parada, L. F., Phadke, S., Pillai, A., Plotkin, S. R., Puri, R., Raji, A., Ramesh, V., Ratner, N., Shankar, S., Sharda, S., Tambe, A., Vikkula, M., Widemann, B. C., Wolkenstein, P. & Upadhyaya, M., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Neurofibromatoses
LEOPARD Syndrome
Neurofibromatosis 1
India
Costello Syndrome
1 Citation (Scopus)

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

Ramaswami, U., Bichet, D. G., Clarke, L. A., Dostalova, G., Fainboim, A., Fellgiebel, A., Forcelini, C. M., An Haack, K., Hopkin, R. J., Mauer, M., Najafian, B., Scott, C. R., Shankar, S., Thurberg, B. L., Tøndel, C., Tylki-Szymanska, A., Bénichou, B. & Wijburg, F. A., Jan 1 2019, In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access
Fabry Disease
Pediatrics
Randomized Controlled Trials
Skin
Urine
1 Citation (Scopus)
Germ Cell and Embryonal Neoplasms
Teratoma
Mutation
Genes
Tumor Biomarkers