Rebecca Mardach

Associate Professor

  • 293 Citations
  • 9 h-Index
19972017
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Fingerprint Dive into the research topics where Rebecca Mardach is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Mitochondrial DNA Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Mutation Medicine & Life Sciences
Carnitine Medicine & Life Sciences
Inborn Errors Amino Acid Metabolism Medicine & Life Sciences
Argininosuccinic Aciduria Medicine & Life Sciences
Biotinidase Deficiency Medicine & Life Sciences
Homocystine Medicine & Life Sciences

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Research Output 1997 2017

  • 293 Citations
  • 9 h-Index
  • 13 Article
  • 1 Comment/debate
3 Citations (Scopus)

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

Intellectual Disability
Autism Spectrum Disorder
10 Citations (Scopus)

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

Enzyme Replacement Therapy
Gaucher Disease
Pediatrics
Enzymes
Bone
35 Citations (Scopus)

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

Gaucher Disease
Safety
Nasopharyngitis
Glucosylceramidase
Enzyme Replacement Therapy
8 Citations (Scopus)

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

Comparative Genomic Hybridization
Chromosomes
Facial Paralysis
Genomic Segmental Duplications
Language Development Disorders
16 Citations (Scopus)

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

Oligonucleotide Array Sequence Analysis
Mitochondrial DNA
Oligonucleotides
Genes
Point Mutation