KristinaP(Cusmano)Cusmano-OzogMDFACMG

PubMed

• 1 citations
  Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a NovelVariant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
  Christina G Tise, Melinda J Palma, Kristina P Cusmano-Ozog, Dena R Matalon> ;Journal of Investigative Medicine High Impact Case Reports. 2023 Feb 8
• Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.
  Kerri Bosfield, Jessica Albert, Nancy Cheng, Tiffany Swaringer, Kristina Cusmano-Ozog, Debra S Regier> ;Genetics in Medicine. 2023 Feb 1
• Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
  Charles J Billington Jr, Kimberly A Chapman, Eyby Leon, Beatrix W Meltzer, Seth I Berger, Matthew Olson, Robert A Figler, Steve A Hoang, Cui Wanxing, Brian R Wamhoff, ...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 3 citations
  Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
  Erin T Strovel, Kristina Cusmano-Ozog, Tim Wood, Chunli Yu> ;Genetics in Medicine. 2022 Apr 1
• 5 citations
  Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
  Christina G. Tise, Jose Andres Morales, Ariel S Lee, Frances Velez-Bartolomei, Brendan J Floyd, Rebecca J. Levy, Kristina Cusmano-Ozog, Annette Feigenbaum, Maura R.Z. ...> ;American Journal of Medical Genetics. Part A. 2021 Mar 8
• 7 citations
  Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
  Yuri A. Zarate, Katherine A. Bosanko, Mary Ann Thomas, David T. Miller, Kristina Cusmano-Ozog, Antonio Martinez-Monseny, Cynthia J. Curry, John M. Graham, Lea Velsher,...> ;Clinical Genetics. 2021 Apr 1
• 16 citations
  Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
  Marcus J. Miller, Kristina Cusmano-Ozog, Devin Oglesbee, Sarah P. Young> ;Genetics in Medicine. 2021 Feb 1
• 21 citations
  Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
  Irene De Biase, Silvia Tortorelli, Lisa E. Kratz, Steven J. Steinberg, Kristina Cusmano-Ozog, Nancy Braverman> ;Genetics in Medicine. 2020 Apr 1
• 10 citations
  Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
  Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Güzel Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, ...> ;Bone. 2020 Jan 7
• 14 citations
  Clinical and molecular spectrum of CHOPS syndrome.
  Sarah E. Raible, Devanshi Mehta, Chiara Bettale, Sarah K. Fiordaliso, Maninder Kaur, Livija Medne, Marlène Rio, E. Haan, Susan M. White, Kristina Cusmano-Ozog, Eriko N...> ;American Journal of Medical Genetics. Part A. 2019 May 6
• 62 citations
  FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia
  Irini Manoli, Justin R. Sysol, Madeline W. Epping, Lina Li, Cindy Wang, Jennifer L. Sloan, Alexandra Pass, Jack Gagné, Yiouli P. Ktena, Lingli Li, Niraj S. Trivedi, B....> ;JCI Insight. 2018 Dec 6
• 31 citations
  Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection
  Tatiana N. Tarasenko, Kristina Cusmano-Ozog, Peter J. McGuire> ;Molecular Genetics and Metabolism. 2018 Sep 1
• 8 citations
  Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction
  David B. Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon> ;Translational Science of Rare Diseases. 2018 Apr 13
• 8 citations
  Prenatal treatment of ornithine transcarbamylase deficiency.
  Yael Wilnai, Yair J. Blumenfeld, Kristina Cusmano, Susan R. Hintz, Deborah Alcorn, William E. Benitz, William E. Berquist, Jonathan A. Bernstein, Ricardo O. Castillo, ...> ;Molecular Genetics and Metabolism. 2018 Jan 16
• 5 citations
  Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
  Michael Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos Ferreira> ;Molecular Genetics and Metabolism Reports. 2017 Dec 1
• 5 citations
  Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
  Anna I Scott, Kristina Cusmano-Ozog, Gregory M. Enns, Tina M. Cowan> ;Molecular Genetics and Metabolism. 2017 Oct 5
• 6 citations
  Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism.
  Brian Kirmse, Juan Cabrerra-Luque, Omar B. Ayyub, Kristina Cusmano, Kimberly A. Chapman, Marshall L. Summar> ;Molecular Genetics and Metabolism Reports. 2017 Sep 4
• 1 citations
  Time-dependent negative bias in plasma ammonia samples in a clinical setting.
  Omar B. Ayyub, Sean E. Hofherr, Kristina Cusmano-Ozog, Nicholas Ah Mew> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 2017 May 10
• 1 citations
  Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis
  Donna B. Raval, Kristina Cusmano-Ozog, Omar B. Ayyub, Callie Jenevein, Laura H. Kofman, Brendan C. Lanpher, Natalie Hauser, Debra S. Regier> ;Molecular Genetics and Metabolism Reports. 2017 Mar 1
• 10 citations
  Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevati...
  Carlos Ferreira, Joseph M. Devaney, Sean E. Hofherr, Laura M. Pollard, Kristina Cusmano-Ozog> ;American Journal of Medical Genetics. Part A. 2017 Feb 1
• 7 citations
  Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency.
  Carlos Ferreira, Kristina Cusmano-Ozog> ;JIMD Reports. 2016 Apr 12
• 26 citations
  The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers
  Marianna Caterino, Randy J. Chandler, Jennifer L. Sloan, Kenneth Dorko, Kristina Cusmano-Ozog, Laura Ingenito, Stephen C. Strom, Esther Imperlini, Emanuela Scolamiero,...> ;Molecular Biosystems. 2016 Jan 26
• 13 citations
  Kupffer cells modulate hepatic fatty acid oxidation during infection with PR8 influenza.
  Tatyana N. Tarasenko, Larry N. Singh, Milani Chatterji-Len, Patricia M. Zerfas, Kristina Cusmano-Ozog, Peter J. McGuire> ;Biochimica Et Biophysica Acta. 2015 Nov 1
• 2 citations
  What is in the can? The dilemma with dietary supplements.
  Kristin D'Aco, Robert A. Mooney, Kristina Cusmano-Ozog, Sean E. Hofherr, Uta Lichter-Konecki> ;Molecular Genetics and Metabolism. 2014 Dec 1
• 33 citations
  Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.
  Gregory M. Enns, Tereza Moore, Anthony Le, Kondala R. Atkuri, Monisha K. Shah, Kristina Cusmano-Ozog, Anna-Kaisa Niemi, Tina M. Cowan> ;Plos One. 2014 Jun 18
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Journal Articles

• Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency  
  Ferreira CR, Cusmano-Ozog K, JIMD reports, 1/1/2017
• Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevati...  
  Ferreira CR, Devaney JM, Hofherr SE, Pollard LM, Cusmano-Ozog K, American journal of medical genetics. Part A, 1/1/2017
• Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis  
  Raval DB, Cusmano-Ozog KP, Ayyub O, Jenevein C, Kofman LH, Lanpher B, Hauser N, Regier DS, Molecular genetics and metabolism reports, 1/1/2017
• The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers  
  Caterino M, Chandler RJ, Sloan JL, Dorko K, Cusmano-Ozog K, Ingenito L, Strom SC, Imperlini E, Scolamiero E, Venditti CP, Ruoppolo M, Molecular bioSystems, 1/1/2016
• Kupffer cells modulate hepatic fatty acid oxidation during infection with PR8 influenza  
  Tarasenko TN, Singh LN, Chatterji-Len M, Zerfas PM, Cusmano-Ozog K, McGuire PJ, Biochimica et biophysica acta, 1/1/2015
• Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism  
  Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG, American Journal of Medical Genetics, Par A, 1/1/2014
• 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 TM, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 1/1/2014
• Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies  
  Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ, Molecular genetics and metabolism reports, 1/1/2014
• Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy  
  Kruszka PS, Kirmse B, Zand DJ, Cusmano-Ozog K, Spector E, Van Hove JL, Chapman KA, Molecular genetics and metabolism reports, 1/1/2014
• What is in the can? The dilemma with dietary supplements  
  D'Aco K, Mooney R, Cusmano-Ozog K, Hofherr S, Lichter-Konecki U, Molecular genetics and metabolism, 1/1/2014
• A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood  
  Moore T, Le A, Niemi AK, Kwan T, Cusmano-Ozog K, Enns GM, Cowan TM, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 1/1/2013
• Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia  
  Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K et al, Proceedings of the National Academy of Sciences of the United States of America, 1/1/2013
• Liver-directed adenoassociated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1  
  Chandler RJ, Tarasenko TN, Cusmano-Ozog K, Sun Q, Sutton VR, Venditti CP, McGuire PJ, Gene therapy, 1/1/2013
• Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening  
  Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Le..., Molecular genetics and metabolism, 1/1/2012
• Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?  
  Adam MP, Kobori JA, Cusmano-Ozog K, Chen KM, Hoyme HE, American journal of medical genetics. Part A, 1/1/2008
• Dopa-responsive dystonia presenting as delayed and awkward gait  
  Cheyette BN, Cheyette SN, Cusmano-Ozog K, Enns GM, Pediatric neurology, 1/1/2008
• 22q133 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay  
  Cusmano-Ozog K, Manning MA, Hoyme HE, American journal of medical genetics. Part C, Seminars in medical genetics, 1/1/2007
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Books/Book Chapters

• Neonatology Clinical Practice and Procedures 
  Chapter: Metabolic Acidosis in the Newborn 
  Page 907 - 924Stevenson,David K, Cohen,Ronald S, Sunshine, PhilipMcGraw-Hill, New York, NY2015

Abstracts/Posters

• Abnormal amino acid pattern in a patient with COQ9 mutations.
  Kristina Cusmano-Ozog, C. Ferreira, American College of Medical Genetics Annual Clinical Genetics Meeting, Phoenix, AZ, 1/21/2017
• MTHFR common variants are NOT associated with autism in our patient population.
  Kristina Cusmano-Ozog, S. Berger, J. Fraser, K. Chapman, D. Regier, B. Meltzer, J. Devaney, American College of Medical Genetics Annual Clinical Genetics Meeting, Phoenix, AZ, 1/21/2017
• Chromosomal Microarray Results From a Large Pediatric Clinical Setting.
  B. Comstock, M. Seprish; S. Hofherr, K. Cusmano-Ozog, American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, 1/8/2016
• Using Areas of Homozygosity identified by Chromosomal Microarray to leverage Next Generation Sequencing: The Children's National Health System Experience.
  K. Cusmano-Ozog; M. Seprish; S. Hofherr, American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, 1/8/2016
• Utility of Chromosomal Microarray Analysis for Autism: A One Year Retrospective Analysis of Testing in Patients with Autism at Children's National Health System.
  Sean Hofherr, Mary Beth Seprish, Julien Weinstein, Veronique Weinstein, Kristina Cusmano-Ozog, American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT, 1/24/2015
• Detection Rate of Chromosomal Microarray: Our first year of experience at Children's National Health Systems
  Kristina Cusmano-Ozog, Michael Sheppard, Sean Hofherr, American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT, 1/24/2015
• Portable Learning Solutions to Support Biochemical Genetics Trainees: a Model for Training in Small Graduate Subspecialty Fields.
  Kristina Cusmano-Ozog, Sean Hofherr, Tina Cowan, Debra Regier, American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT, 1/24/2015
• Our experience at Children's National Health Systems using CytoScan(R) Dx Assay.
  K. Cusmano-Ozog; M. Seprish; S. Hofherr, Annual Meeting of The American Society of Human Genetics, Baltimore, MD, 1/6/2015
• Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis
  C. Ferreira, J. Devaney, S. Hoffher, Laura Pollard, K. Cusmano-Ozog, Molecular Genetics and Metabolism, 1/1/2015
• Clinical Utility of Alloisoleucine in Maple Syrup Urine Disease.
  C Nenon, K Cusmano-Ozog, N AhMew, American College of Medical Genetics Annual Clinical Genetics Meeting, Phoenix, AZ, 1/19/2013
• Atypical Rett Syndrome: Is it really more common in females?
  K. Cusmano-Ozog, P. Tanpaiboon, L. Harris, J. Turner, L. Kehoe, T. Biagi, B. Lanpher, 63rd Annual Meeting of The American Society of Human Genetics, Boston, MA, 1/1/2013
• Mevalonate Kinase Deficiency Presenting As Neonatal Liver Failure.
  DS Regier, NA Banks, EL Leon, U Lichter-Konecki, KP Cusmano-Ozog, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease, 1/1/2013
• Development Of A GC-MS Sim/Scan Method For Organic Acid Analysis.
  SE Hofherr and KP Cusmano-Ozog, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease, 1/1/2013
• Dramatic Effect Of High Performance Activity On Phenylalanine Levels In An Adolescent Female With Phenylketonuria.
  EL MacLeod and KP Cusmano-Ozog, 12th International Congress of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease, 1/1/2013
• Glutathione Deficiency In Methylmalonic Acidemia Is Responsive To Treatment With N-Acetylcysteine.
  Cusmano-Ozog K, Moore T, Cowan TM, Enns GM, J Invest Med, 1/1/2010
• Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with atypical acylcarnitines and normal in vitro enzyme activity.
  Cusmano-Ozog K, Enns GM, Cowan TM, 2009 American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, 1/25/2009
• A new tandem mass spectrometry (MS/MS) method for detecting Pompe disease in dried blood spots.
  Cusmano-Ozog K, Le A, Enns GM, Cowan TM, 59th Annual Meeting of The American Society of Human Genetics, Honolulu, HI, 1/20/2009
• Outcomes in cobalamin C disease identified by expanded newborn screening in California.
  Cusmano-Ozog K, Abdenur JA, Barshop BA, Cederbaum S, Lorey F, Packman S, Powell B, Waterson J, Cowan TM, Enns GM, Mol Genet Metab, 1/1/2009
• Ethylmalonic Encephalopathy: Expanding the Phenotype.
  Cusmano-Ozog K, Kwan A, Enns GM, Cowan TM, J Invest Med, 1/1/2009
• Confirmatory Testing Outcomes Following Newborn Screening for Biotinidase Deficiency.
  Cusmano-Ozog K, Lorey F, Kazerouni N, Roberson M, Cowan TM, 58th Annual Meeting of The American Society of Human Genetics, Philadelphia, PA, 1/11/2008
• Outcomes among newborns with abnormal C5-OH on expanded newborn screening in California.
  Cusmano-Ozog K, Lorey F, Feuchtbaum L, Sweet VT, Cowan TM, Enns GM, Mol Genet Metab, 1/1/2008
• Neonatal Presentation of Glutaric Aciduria Type I.
  Cusmano-Ozog K, Waterson JR, Enns GM, Cowan TM, J Invest Med, 1/1/2008
• 4q34>ter: Possible critical region for tracheal development.
  Manning M, Cusmano K, Enns G, Proceedings of the Greenwood Genetics Center, 1/1/2008
• D409H homozygosity and the cardiovascular form of Gaucher disease: A case report.
  Cusmano-Ozog K, Sweet VT, Enns GM, 57th Annual Meeting of The American Society of Human Genetics, San Diego, CA, 1/23/2007
• Cobalamin C disease and expanded newborn screening: the California experience.
  Cusmano-Ozog K, Lorey F, Levine S, Martin M, Nicholas E, Packman S, Rosenblatt DS, Cederbaum SD, Cowan TM, Enns GM, Mol Genet Metab, 1/1/2007
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Lectures

• A 5mo with poor weight gain 
  1/1/2016
• Impact on the clinic: CytoScan Dx the first FDA-cleared microarray test. 
  1/1/2015
• Newborn Metabolic Screening...So Much More Than "The PKU Test." 
  1/1/2015
• Linear Sebaceous Nevus Syndrome and Post Zygotic KRAS Mutations. 
  1/1/2015
• Inborn Errors of Metabolism Amenable to Liver Transplant. 
  1/1/2015
• PHGDH: A gene with more than one phenotype. 
  1/1/2015
• Molecular Assay - Fragile X. 
  1/1/2014
• TARP syndrome; Expanding the Phenotype. 
  1/1/2014
• Atypical Rett Syndrome: Is it really more common in females? 
  1/1/2013
• Of Mice and MMA - Tell me about the pathophysiology. 
  1/1/2010
• Prenatal Diagnosis and Management of Ornithine Transcarbamylase (OTC) Deficiency: Survival Beyond Liver Transplantation. 
  1/1/2010
• Glutathione Deficiency in MMA is Responsive to Treatment with NAC. 
  1/1/2010
• The Genetic Causes of Fetal Hydrops. 
  1/1/2009
• Lysosomal Storage Diseases: A review. 
  1/1/2009
• Ethylmalonic Encephalopathy: Expanding the Phenotype. 
  1/1/2009
• Outcomes Among Newborns with Abnormal C5-OH on Expanded Newborn Screening in California. 
  1/1/2008
• MMADHC and Cobalamin D disease 
  1/1/2008
• Lessons Learned from Newborn Screening 
  1/1/2008
• Neonatal Presentation of Glutaric Aciduria Type I. 
  1/1/2008
• Cobalamin C Disease and Expanded Newborn Screening: The California Experience. 
  1/1/2007
• Could a Spoonful of Sugar Treat Gaucher Disease? A Closer Look at the Iminosugar, Isofagomine. 
  1/1/2007
• Retinitis Pigmentosa and Genetics, a review. 
  1/1/2007
• Cobalamin C Disease and Expanded Newborn Screening: The Northern California Experience. 
  1/1/2007
• Asymmetric Crying Facies: A Common Facial Malformation of Heterogeneous Etiology. 
  1/1/2006
• Ethnicity and MMA MUT mutations - Is there a correlation? 
  1/1/2006
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