Rebecca Mardach

Title(s)	Associate Physician, Pediatrics
School	Vc-health Sciences-schools
Address	9500 Gilman Drive # La Jolla CA 92093
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Bibliographic

Publications

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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Response to Grosse et al. Am J Hum Genet. 2023 Jun 01; 110(6):1017. Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 37267897; PMCID: PMC10256999.

View in: PubMed Mentions: Fields:
Gen Genetics
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet. 2022 09 01; 109(9):1605-1619. Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. PMID: 36007526; PMCID: PMC9502059.

View in: PubMed Mentions: 33 Fields:
Gen Genetics
Translation:Humans PHPublic Health
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022 07 26; 13(1):4057. Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. PMID: 35882841; PMCID: PMC9325884.

View in: PubMed Mentions: 19 Fields:
Bio Biology Sci Science
Translation:Humans
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature. Cold Spring Harb Mol Case Stud. 2022 02; 8(2). Nguyen MG, Tronick L, Modirian F, Mardach R, Besterman AD. PMID: 35105663; PMCID: PMC8958916.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans
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; PMCID: PMC8208046.

View in: PubMed Mentions: 2 Fields:
Gen Genetics
Translation:Humans
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; PMCID: PMC8631250.

View in: PubMed Mentions: 21 Fields:
Gen Genetics
Translation:Humans
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: 5 Fields:
Gen Genetics
Translation:Humans
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: 8 Fields:
Bio Biochemistry Met Metabolism Mol Molecular Biology
Translation:Humans CTClinical Trials
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; PMCID: PMC3586535.

View in: PubMed Mentions: 16 Fields:
Hem Hematology
Translation:Humans CTClinical Trials
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:
Gen Genetics
Translation:Humans Cells
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:
Bio Biochemistry Met Metabolism Mol Molecular Biology
Translation:Humans Cells
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; PMCID: PMC2699619.

View in: PubMed Mentions: 11 Fields:
Neu Neurology
Translation:Humans Cells
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: 7 Fields:
Ped Pediatrics
Translation:Humans
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: 37 Fields:
Bio Biochemistry Met Metabolism Mol Molecular Biology
Translation:Humans
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; PMCID: PMC151007.

View in: PubMed Mentions: 12 Fields:
Med Medicine (General)
Translation:Humans Cells
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: 20 Fields:
Bio Biochemistry Met Metabolism Mol Molecular Biology
Translation:Humans Cells
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:
Obs Obstetrics
Translation:Humans Cells
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: 5 Fields:
Met Metabolism
Translation:Humans