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.