Dr. Mardach main clinical interests are the application of medical genomics to cancer assessment and treatment and the diagnosis of genetic disorders causing neurodevelopmental dysfunction.
M.D., Javeriana University Medical School, Bogota, Columbia 1980
Pediatrics, St. Lukes-Roosevelt Hospital, Columbia University, New York NY 1986-1988
Clinical Genetics, David Geffen School of Medicine at UCLA, Los Angeles CA 1988-1990
Clinical Biochemical Genetics, David Geffen School of Medicine at UCLA, Los Angeles CA 1990-1992
American Board of Medical Genetics - Biochemical Genetics,
American Board of Medical Genetics - Clinical Genetics (M.D.),
American Society of Human Genetics
Colombian Consortium for the Advancement of Children Health (COACH)
Society for Inherited Metabolic Disorders
Select Recent Publications
Reddy, KS, Mardach, R, Bass, H. Oligoarray. (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32. Cytogenet Genome Res. 2010;132: 113-20.
Zhang S, Li, FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab. 2010;99(1): 53-57.
Pancrudo, J, Shanske, S, Coku, J, Lu, J, Mardach, R, Akman, O, Krishna, S, Bonilla, E, DiMauro, S. Mitochondrial myopathy associated with a novel mutation in mtDNA. Neuromuscul Disord. 2007;17: 651-654.
Camacho JA, Mardach, R, Rioseco-Machado, N, Ruiz-Pesini, E, Derveneba, O, Andrade, D, Zaldivar, F, Qu, J, and Cederbaum, SD. Clinical and functional characterization of a Human ORNT1Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome. Pediatric Research. 2006;60: 423-429.
Mardach, R, Verity, MA, and Cederbaum, SD. Clinical, pathological, and biochemical studies in a patient with Propionic Acidemia and Fatal Cardiomyopathy. Mol Genetics and Metabolism. 2005;85: 286-29.
Lee-Jun W, Wladyka, C, Mardach-Verdon, R. A Mitochondrial DNA mutation in a patient with an extensive family history of Duchenne Muscular Dystrophy. Muscle Nerve. 2004;30: 118-122.
Mardach, R, Zempleni, J, Wolf, B, Cress, S, Boylan, J, Roth, S, Cederbaum, SD, and Mock, D. Biotin dependency due to a defect in biotin transport. J clin invest. 2002;109: 1617-1623.
Mardach, R, Roe, K, and Cederbaum, SD. Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency. J Inherited Metab Dis. 1998;22: 102-106.
Pomponio, R J, Hymes, J, Pandya, A, Landa, B, Melone, P, Javaheri, R, Mardach, R, Morton, SW, Meyers, GA, Reynolds, T, Buck, G, Nance, WE, Wolf, B. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses, Prenat Diagn. 1998;2: 117-122.
Roe, CR, Cederbaum, SD, Roe, DS, Mardach, R, Galindo, A, and Sweetman, L. Isolated isobutyryl CoA Dehydrogenase Deficiency: an Unrecognized Defect in Human Valine Metabolism. Mol Genet and Metab. 1998;65: 264-271.