Professional Summary »
Specializing In »
Practice Locations »
Specializing In
- Pathology
Professional Summary
Professional Education
- Board Certification: American Board of Medical Genetics and Genomics, Clinical Biochemical Genetics (2009)
- Medical Education: University of South Florida Morsani College of Medicine (2002) FL
- Residency: Stanford University Division of Medical Genetics (2007) CA
- Board Certification: American Board of Medical Genetics and Genomics, Clinical Genetics and Genomics (2018)
- Board Certification: American Board of Medical Genetics and Genomics, Clinical Molecular Genetics (2015)
- Fellowship: National Institute Of Health Medical Genetics and Genomics Fellowship (2015) MD
- Board Certification, Clinical Biochemical Genetics, American Board of Medical Genetics (2009)
- Fellowship: Stanford University Clinical Biochemical Genetics Fellowship (2008) CA
- Board Certification: American Board of Pediatrics, Pediatrics (2005)
- Residency: University of South Florida Pediatric Residency (2005) FL
Publications
-
22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
Cusmano-Ozog, K., Manning, M. A., & Hoyme, H. E. (2007). 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 145C(4), 393–98. -
Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome?
Adam, M. P., Kobori, J. A., Cusmano-Ozog, K., Chen, K. M., & Hoyme, H. E. (2008). Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(5), 543–47. -
The role of vanin-1 and oxidative stress-related pathways in distinguishing acute and chronic pediatric ITP
Zhang, B., Lo, C., Shen, L., Sood, R., Jones, C., Cusmano-Ozog, K., … Zehnder, J. L. (2011). The role of vanin-1 and oxidative stress-related pathways in distinguishing acute and chronic pediatric ITP. BLOOD, 117(17), 4569–79. -
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.
Moore, T., Le, A., Niemi, A.-K., Kwan, T., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2013). A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 929, 51–55. -
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Johnston, J. J., Sapp, J. C., Curry, C., Horton, M., Leon, E., Cusmano-Ozog, K., … Biesecker, L. G. (2014). Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. American Journal of Medical Genetics. Part A, 164A(1), 120–28. -
A rapid, sensitive method for quantitative analysis of underivatized amino acids by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Le, A., Ng, A., Kwan, T., Cusmano-Ozog, K., & Cowan, T. M. (2014). A rapid, sensitive method for quantitative analysis of underivatized amino acids by liquid chromatography-tandem mass spectrometry (LC-MS/MS). JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, 944, 166–74. -
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
Arnold, G. L., Salazar, D., Neidich, J. A., Suwannarat, P., Graham, B. H., Lichter-Konecki, U., … Dezsofi, A. (2012). Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. MOLECULAR GENETICS AND METABOLISM, 106(4), 439–41. -
Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status
Enns, G. M., Moore, T., Le, A., Atkuri, K., Shah, M. K., Cusmano-Ozog, K., … Cowan, T. M. (2014). Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status. PLOS ONE, 9(6). -
Dopa-responsive dystonia presenting as delayed and awkward gait
Cheyette, B. N. R., Cheyette, S. N. R., Cusmano-Ozog, K., & Enns, G. M. (2008). Dopa-responsive dystonia presenting as delayed and awkward gait. PEDIATRIC NEUROLOGY, 38(4), 273–75. -
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
Manoli, I., Sysol, J. R., Li, L., Houillier, P., Garone, C., Wang, C., … Venditti, C. P. (2013). Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 110(33), 13552–57. -
Prenatal treatment of ornithine transcarbamylase deficiency.
Wilnai, Y., Blumenfeld, Y. J., Cusmano, K., Hintz, S. R., Alcorn, D., Benitz, W. E., … Enns, G. M. (2018). Prenatal treatment of ornithine transcarbamylase deficiency. Molecular Genetics and Metabolism. -
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
Scott, A. I., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2017). Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Molecular Genetics and Metabolism. -
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
Manoli, I., Sysol, J. R., Epping, M. W., Li, L., Wang, C., Sloan, J. L., … Venditti, C. P. (2018). FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. JCI Insight, 3(23). -
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Ehmke, N., Cusmano-Ozog, K., Koenig, R., Holtgrewe, M., Nur, B., Mihci, E., … Ferreira, C. R. (2020). Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone, 133, 115219. -
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
De Biase, I., Tortorelli, S., Kratz, L., J Steinberg, S., Cusmano-Ozog, K., & Braverman, N. (2020). Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics, 22(4), 686–97. -
Clinical and molecular spectrum of CHOPS syndrome.
Raible, S. E., Mehta, D., Bettale, C., Fiordaliso, S., Kaur, M., Medne, L., … Izumi, K. (2019). Clinical and molecular spectrum of CHOPS syndrome. American Journal of Medical Genetics. Part A, 179(7), 1126–38. -
Tissue acylcarnitine status in a mouse model of mitochondrial ß-oxidation deficiency during metabolic decompensation due to influenza virus infection.
Tarasenko, T. N., Cusmano-Ozog, K., & McGuire, P. J. (2018). Tissue acylcarnitine status in a mouse model of mitochondrial ß-oxidation deficiency during metabolic decompensation due to influenza virus infection. Molecular Genetics and Metabolism, 125(1-2), 144–52. -
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.
Beck, D. B., Cusmano-Ozog, K., Andescavage, N., & Leon, E. (2018). Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Translational Science of Rare Diseases, 3(1), 45–48. -
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.
Muriello, M. J., Viall, S., Bottiglieri, T., Cusmano-Ozog, K., & Ferreira, C. R. (2017). Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. Molecular Genetics and Metabolism Reports, 13, 9–12. -
Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism.
Kirmse, B., Cabrerra-Luque, J., Ayyub, O., Cusmano, K., Chapman, K., & Summar, M. (2017). Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism. Molecular Genetics and Metabolism Reports, 13, 52–54. -
Time-dependent negative bias in plasma ammonia samples in a clinical setting.
Ayyub, O. B., Hofherr, S., Cusmano-Ozog, K., & Ah Mew, N. (2017). Time-dependent negative bias in plasma ammonia samples in a clinical setting. Clinica Chimica Acta; International Journal of Clinical Chemistry, 471, 126–27. -
Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis.
Raval, D. B., Cusmano-Ozog, K. P., Ayyub, O., Jenevein, C., Kofman, L. H., Lanpher, B., … Regier, D. S. (2017). Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis. Molecular Genetics and Metabolism Reports, 10, 8–10. -
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
Ferreira, C. R., Devaney, J. M., Hofherr, S. E., Pollard, L. M., & Cusmano-Ozog, K. (2017). Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. American Journal of Medical Genetics. Part A, 173(2), 501–9. -
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency.
Ferreira, C. R., & Cusmano-Ozog, K. (2017). Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency. JIMD Reports, 31, 45–49. -
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.
Caterino, M., Chandler, R. J., Sloan, J. L., Dorko, K., Cusmano-Ozog, K., Ingenito, L., … Ruoppolo, M. (2016). The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. Molecular BioSystems, 12(2), 566–74. -
Kupffer cells modulate hepatic fatty acid oxidation during infection with PR8 influenza.
Tarasenko, T. N., Singh, L. N., Chatterji-Len, M., Zerfas, P. M., Cusmano-Ozog, K., & McGuire, P. J. (2015). Kupffer cells modulate hepatic fatty acid oxidation during infection with PR8 influenza. Biochimica Et Biophysica Acta, 1852(11), 2391–2401. -
What is in the can? The dilemma with dietary supplements.
D'Aco, K., Mooney, R., Cusmano-Ozog, K., Hofherr, S., & Lichter-Konecki, U. (2014). What is in the can? The dilemma with dietary supplements. Molecular Genetics and Metabolism, 113(4), 239–40. -
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.
Kruszka, P. S., Kirmse, B., Zand, D. J., Cusmano-Ozog, K., Spector, E., Van Hove, J. L., & Chapman, K. A. (2014). Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Molecular Genetics and Metabolism Reports, 1, 237–40. -
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Fraser, J. L., Vanderver, A., Yang, S., Chang, T., Cramp, L., Vezina, G., … Zand, D. J. (2014). Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. Molecular Genetics and Metabolism Reports, 1, 66–70. -
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Chandler, R. J., Tarasenko, T. N., Cusmano-Ozog, K., Sun, Q., Sutton, V. R., Venditti, C. P., & McGuire, P. J. (2013). Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. Gene Therapy, 20(12), 1188–91. -
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Zarate, Y. A., Bosanko, K. A., Thomas, M. A., Miller, D. T., Cusmano-Ozog, K., Martinez-Monseny, A., … Lacro, R. V. (2020). Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical Genetics. -
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Tise, C. G., Morales, J. A., Lee, A. S., Velez-Bartolomei, F., Floyd, B. J., Levy, R. J., … Enns, G. M. (2021). Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy. American Journal of Medical Genetics. Part A. -
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Miller, M. J., Cusmano-Ozog, K., Oglesbee, D., & Young, S. (2021). Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics, 23(2), 249–58.
Practice Locations
Stanford Hospital Stanford, CA
Stanford, CA
Stanford Hospital
300 - 500 Pasteur Drive
Stanford , CA 94304
More Clinic Information » Getting Here »