Rebecca Mardach

Associate Professor

  • 299 Citations
  • 9 h-Index
19972017

Research output per year

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Research Output

  • 299 Citations
  • 9 h-Index
  • 13 Article
  • 1 Comment/debate

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Mullegama, S. V., Klein, S. D., Nguyen, D. C., Kim, A., Signer, R., Fox, M., Dorrani, N., Hendershot, A., Mardach, R., Suddath, R., Dipple, K., Vilain, E., Wong, D. A., Deignan, J. L., D Cederbaum, S., Grody, W. W. & Martinez-Agosto, J. A., Dec 1 2017, In : Genetics in medicine : official journal of the American College of Medical Genetics. 19, 12

Research output: Contribution to journalComment/debate

4 Scopus citations

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase

Smith, L., Rhead, W., Charrow, J., Shankar, S., Bavdekar, A., Longo, N., Mardach, R., Harmatz, P., Hangartner, T., Lee, H. M., Crombez, E. & Pastores, G. M., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 164-171 8 p.

Research output: Contribution to journalArticle

  • 10 Scopus citations

    Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase

    Zimran, A., Pastores, G. M., Tylki-Szymanska, A., Hughes, D. A., Elstein, D., Mardach, R., Eng, C., Smith, L., Heisel-Kurth, M., Charrow, J., Harmatz, P., Fernhoff, P., Rhead, W., Longo, N., Giraldo, P., Ruiz, J. A., Zahrieh, D., Crombez, E. & Grabowski, G. A., Mar 1 2013, In : American Journal of Hematology. 88, 3, p. 172-178 7 p.

    Research output: Contribution to journalArticle

  • 36 Scopus citations

    Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32

    Reddy, K. S., Mardach, R. & Bass, H., Jan 1 2011, In : Cytogenetic and Genome Research. 132, 1-2, p. 113-120 8 p.

    Research output: Contribution to journalArticle

  • 8 Scopus citations

    Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion

    Zhang, S., Li, F. Y., Bass, H. N., Pursley, A., Schmitt, E. S., Brown, B. L., Brundage, E. K., Mardach, R. & Wong, L. J., Jan 1 2010, In : Molecular Genetics and Metabolism. 99, 1, p. 53-57 5 p.

    Research output: Contribution to journalArticle

  • 16 Scopus citations