RebeccaMardachMDM.D.

Medical Genetics • San Diego, CA

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Associate Professor Pediatrics/Medical Genetics

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Office
3030 Childrens Way
San Diego, CA 92123
Phone+1 858-966-8360

Fax+1 858-966-7942
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Education & Training

UCLA David Geffen School of Medicine/UCLA Medical CenterFellowship, Medical Biochemical Genetics, 1990 - 1992
UCLA David Geffen School of Medicine/UCLA Medical CenterFellowship, Medical Biochemical Genetics, 1988 - 1990
Icahn School of Medicine at Mount SinaiResidency, Pediatrics, 1985 - 1988
Pontifical Xavierian UniversityClass of 1980

Certifications & Licensure

CA State Medical License 1988 - 2024
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Medical Genetics and GenomicsClinical Biochemical Genetics

Awards, Honors, & Recognition

Profesor Internacional Universidad CES, Medellin, Colombia, 2017

Clinical Trials

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Start of enrollment: 2007 Jul 25
Completed
Phase 2, Phase 3
Treatment Protocol of Replagal for Patients With Fabry Disease
No longer available

Publications & Presentations

PubMed

Response to Grosse et al.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Ang...> ;American Journal of Human Genetics. 2023 Jun 1
44 citations
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Ang...> ;American Journal of Human Genetics. 2022 Sep 1
19 citations
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Mallory J Owen, Sebastien Lefebvre, Christian Hansen, Chris M Kunard, David P Dimmock, Laurie D Smith, Gunter Scharer, Rebecca Mardach, Mary J Willis, Annette Feigenba...> ;Nature Communications. 2022 Jul 26
2 citations
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Minh G Nguyen, Faraz Modirian, Rebecca Mardach, Aaron D Besterman, Tronick, L.> ;Cold Spring Harbor Molecular Case Studies. 2022 Feb 1
4 citations
Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
Kiely N. James, Megan Lau, Katayoon Shayan, Jerica Lenberg, Rebecca Mardach, Romeo C. Ignacio, Jonathan Halbach, Lillian Choi, Soma Kumar, Katarzyna A. Ellsworth> ;Cold Spring Harbor Molecular Case Studies. 2021 Jun 1
34 citations
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
14 citations
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Sureni V. Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katr...> ;Genetics in Medicine. 2017 Sep 21
19 citations
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Laurie D. Smith, William J. Rhead, Joel Charrow, Suma P. Shankar, Ashish Bavdekar, Nicola Longo, Rebecca Mardach, Paul Harmatz, Thomas N. Hangartner, Hak-Myung Lee, Er...> ;Molecular Genetics and Metabolism. 2016 Feb 1
44 citations
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase
Ari Zimran, Gregory M. Pastores, Anna Tylki-Szymańska, Derralynn Hughes, Deborah Elstein, Rebecca Mardach, Christine M. Eng, Laurie D. Smith, Margaret Heisel-Kurth, Jo...> ;American Journal of Hematology. 2013 Mar 1
9 citations
Oligoarray (105K) CGH Analysis of Chromosome Microdeletions within 10q22.1q24.32
K. S. Reddy, Rebecca Mardach, Harold N. Bass> ;Cytogenetic and Genome Research. 2011 Jan 1
15 citations
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.
Shulin Zhang, Fang yuan Li, Harold N. Bass, Amber Pursley, Eric S. Schmitt, Blaire L. Brown, Ellen K. Brundage, Rebecca Mardach, Lee-Jun C. Wong> ;Molecular Genetics and Metabolism. 2010 Jan 1
12 citations
Mitochondrial myopathy associated with a novel mutation in mtDNA
Jacklyn Pancrudo, Sara Shanske, Jorida Coku, Jiesheng Lu, Rebecca Mardach, Orhan H. Akman, Sindu Krishna, Eduardo Bonilla, Salvatore DiMauro> ;Neuromuscular Disorders. 2007 Aug 1
20 citations
Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
Jose Camacho, Rebecca Mardach, Natalia Rioseco-Camacho, Eduardo Ruiz-Pesini, Olga Derbeneva, Dario Andrade, Frank Zaldivar, Yong Qu, Stephen D. Cederbaum> ;Pediatric Research. 2006 Aug 28
75 citations
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.
Rebecca Mardach, M. Anthony Verity, Stephen D. Cederbaum> ;Molecular Genetics and Metabolism. 2005 Aug 1
6 citations
A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy
Lee-Jun C. Wong, Christopher Wladyka, Rebecca Mardach-Verdon> ;Muscle & Nerve. 2004 Jul 1
40 citations
Biotin dependency due to a defect in biotin transport
Rebecca Mardach, Janos Zempleni, Barry Wolf, Martin J. Cannon, Michael Jennings, Sally Cress, Jane Boylan, Susan Roth, Stephen D. Cederbaum, Donald M. Mock> ;The Journal of Clinical Investigation. 2002 Jun 15
56 citations
ISOLATED ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY : AN UNRECOGNIZED DEFECT IN HUMAN VALINE METABOLISM
Charles R. Roe, Stephen D. Cederbaum, Diane S. Roe, Rebecca Mardach, Alvaro Galindo, Lawrence Sweetman> ;Molecular Genetics and Metabolism. 1998 Dec 1
4 citations
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses
Robert J. Pomponio, Jeanne Hymes, Arti Pandya, Barbara Landa, P. Melone, R. Javaheri, Rebecca Mardach, S. W. Morton, Gregory A. Meyers, Thomas R. Reynolds, Gregory A. ...> ;Prenatal Diagnosis. 1998 Feb 1
11 citations
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria
Harold N. Bass, D. LaGrave, Rebecca Mardach, Stephen D. Cederbaum, C. D. Fuster, M. Chetty> ;Journal of Inherited Metabolic Disease. 1997 Nov 1
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Other Languages

Spanish, French

Hospital Affiliations

Rady Children's Hospital - San DiegoSan Diego, California