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), 686–697.

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), 1126–1138.

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), 144–152.

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, 126–127.

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), 501–509.

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), 2391–401.

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, 237–240.

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), 249–258.

Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Strovel, E. T., Cusmano-Ozog, K., Wood, T., & Yu, C. (2022). Measurement of lysosomal enzyme activities: 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, 24(4), 769–783.

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.
Cusmano-Ozog, K. P., Renck, A. K., & Tise, C. G. (2022). Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation. JIMD Reports, 63(6), 563–567.

Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.
Bosfield, K., Albert, J., Cheng, N., Swaringer, T., Cusmano-Ozog, K., & Regier, D. S. (2022). Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum. Genetics in Medicine : Official Journal of the American College of Medical Genetics.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
Tise, C. G., Palma, M. J., Cusmano-Ozog, K. P., & Matalon, D. R. (2023). Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder. Journal of Investigative Medicine High Impact Case Reports, 11, 23247096231154438.

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.
Niehaus, A. D., Mendelsohn, B. A., Zimmerman, B., Lee, C. U., Manning, M. A., Cusmano-Ozog, K. P., & Tise, C. G. (2023). Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy. American Journal of Medical Genetics. Part A.

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Tise, C. G., Verscaj, C. P., Mendelsohn, B. A., Woods, J., Lee, C. U., Enns, G. M., … Cusmano-Ozog, K. P. (2023). MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype. American Journal of Medical Genetics. Part A.

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Galarreta, C. I., Wong, K., Carmichael, J., Woods, J., Tise, C. G., Niehaus, A. D., … Cusmano-Ozog, K. P. (2023). A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. American Journal of Medical Genetics. Part A.

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington, C. J., Chapman, K. A., Leon, E., Meltzer, B. W., Berger, S. I., Olson, M., … Cusmano-Ozog, K. (2022). Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry. American Journal of Medical Genetics. Part A, 188(9), 2738–2749.