Rebecca Mardach

Title(s)Associate Professor, General Pediatrics
SchoolUniversity of California, Davis
Address2516 Stockton Blvd
CA 95817
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Expanding the genotypic spectrum of ACTG2-related visceral myopathy. Cold Spring Harb Mol Case Stud. 2021 06; 7(3). James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R, Halbach J, Choi L, Kumar S, Ellsworth KA. PMID: 33883208.
      View in: PubMed   Mentions:    Fields:    
    2. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. PMID: 28933790.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    4. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Mol Genet Metab. 2016 Feb; 117(2):164-71. Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. PMID: 26043810.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCTClinical Trials
    5. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013 Mar; 88(3):172-8. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. PMID: 23339116.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCTClinical Trials
    6. Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32. Cytogenet Genome Res. 2011; 132(1-2):113-20. Reddy KS, Mardach R, Bass H. PMID: 20714122.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    7. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab. 2010 Jan; 99(1):53-7. Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. PMID: 19815440.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    8. Mitochondrial myopathy associated with a novel mutation in mtDNA. Neuromuscul Disord. 2007 Aug; 17(8):651-4. Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S. PMID: 17588757.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    9. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct; 60(4):423-9. Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD. PMID: 16940241.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    10. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab. 2005 Aug; 85(4):286-90. Mardach R, Verity MA, Cederbaum SD. PMID: 15939644.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    11. A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy. Muscle Nerve. 2004 Jul; 30(1):118-22. Wong LJ, Wladyka C, Mardach-Verdon R. PMID: 15221888.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Biotin dependency due to a defect in biotin transport. J Clin Invest. 2002 Jun; 109(12):1617-23. Mardach R, Zempleni J, Wolf B, Cannon MJ, Jennings ML, Cress S, Boylan J, Roth S, Cederbaum S, Mock DM. PMID: 12070309.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    13. Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency. J Inherit Metab Dis. 1999 Apr; 22(2):102-6. Mardach MR, Roe K, Cederbaum SD. PMID: 10234604.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    14. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab. 1998 Dec; 65(4):264-71. Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. PMID: 9889013.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    15. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. Prenat Diagn. 1998 Feb; 18(2):117-22. Pomponio RJ, Hymes J, Pandya A, Landa B, Melone P, Javaheri R, Mardach R, Morton SW, Meyers GA, Reynolds T, Buck G, Nance WE, Wolf B. PMID: 9516011.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    16. Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria. J Inherit Metab Dis. 1997 Nov; 20(6):831-2. Bass HN, LaGrave D, Mardach R, Cederbaum SD, Fuster CD, Chetty M. PMID: 9427154.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
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