• 1969 Citations
  • 21 Scopus h-Index
20022019
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Research Output 2002 2019

  • 1969 Citations
  • 21 Scopus h-Index
  • 46 Article
  • 4 Chapter
  • 3 Comment/debate
  • 1 Conference article
4 Citations (Scopus)

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening

Vidal-Folch, N., Milosevic, D., Majumdar, R., Gavrilov, D., Matern, D., Raymond, K., Rinaldo, P., Tortorelli, S., Abraham, R. S. & Oglesbee, D., Sep 1 2017, In : Journal of Molecular Diagnostics. 19, 5, p. 755-765 11 p.

Research output: Contribution to journalArticle

Severe Combined Immunodeficiency
T-Cell Antigen Receptor
Newborn Infant
Polymerase Chain Reaction
Lymphopenia
30 Citations (Scopus)

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing

Smith, E. H., Thomas, C., McHugh, D., Gavrilov, D., Raymond, K., Rinaldo, P., Tortorelli, S., Matern, D., Highsmith, W. E. J. & Oglesbee, D., Jul 2010, In : Molecular Genetics and Metabolism. 100, 3, p. 241-250 10 p.

Research output: Contribution to journalArticle

Oxidoreductases
Newborn Infant
Genotype
Urine
Screening
2 Citations (Scopus)

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

Majumdar, R., Yori, A., Rush, P. W., Raymond, K., Gavrilov, D., Tortorelli, S., Matern, D., Rinaldo, P., Feldman, G. L. & Oglesbee, D., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 6, p. 795-799 5 p.

Research output: Contribution to journalArticle

Formiminoglutamic Acid
Genes
Genetic Databases
Glutamate formiminotransferase deficiency
formiminotetrahydrofolate cyclodeaminase
1 Citation (Scopus)

A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

Pierce, B. L., Tong, L., Dean, S., Argos, M., Jasmine, F., Rakibuz-Zaman, M., Sarwar, G., Islam, M. T., Shahriar, H., Islam, T., Rahman, M., Yunus, M., Lynch, V. J., Oglesbee, D., Graziano, J. H., Kibriya, M. G., Gamble, M. V. & Ahsan, H., Mar 1 2019, In : PLoS genetics. 15, 3, p. e1007984

Research output: Contribution to journalArticle

Open Access
hydroxymethyltransferases and formyltransferases
Bangladesh
Arsenic
arsenic
phenotype
14 Citations (Scopus)

An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency

Smith, E. H., Gavrilov, D. K., Oglesbee, D., Freeman, W. D., Vavra, M. W., Matern, D. & Tortorelli, S., 2010, In : Journal of Inherited Metabolic Disease. 33, SUPPL. 3

Research output: Contribution to journalArticle

Racemases and Epimerases
Acyl Coenzyme A
Phytanic Acid
Peroxisomal Disorders
Genetic Databases
7 Citations (Scopus)

An overview of peroxisomal biogenesis disorders

Oglesbee, D., Jan 1 2005, In : Molecular Genetics and Metabolism. 84, 4, p. 299-301 3 p.

Research output: Contribution to journalComment/debate

Peroxisomal Disorders
24 Citations (Scopus)

A replicating module as the unit of mitochondrial structure and functioning

Capaldi, R. A., Aggeler, R., Gilkerson, R., Hanson, G., Knowles, M., Marcus, A., Margineantu, D., Marusich, M., Murray, J., Oglesbee, D., Remington, S. J. & Rossignol, R., Sep 10 2002, In : Biochimica et Biophysica Acta - Bioenergetics. 1555, 1-3, p. 192-195 4 p.

Research output: Contribution to journalArticle

Reticulum
Mitochondria
Organelles
Pyruvate Dehydrogenase Complex
Tissue culture
15 Citations (Scopus)

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome

Hall, P., Michels, V., Gavrilov, D., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P. & Tortorelli, S., Sep 2013, In : Molecular Genetics and Metabolism. 110, 1-2, p. 176-178 3 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Trazodone
Testing
Artifacts
Medical Records

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

Oliver, G. R., Tang, X., Schultz-Rogers, L. E., Vidal-Folch, N., Garrett Jenkinson, W., Schwab, T. L., Gaonkar, K., Cousin, M. A., Nair, A., Basu, S., Chanana, P., Oglesbee, D. & Klee, E. W., Jan 1 2019, In : PloS one. 14, 10, e0223337.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Fusion reactions
prioritization
germ cells
RNA Sequence Analysis
44 Citations (Scopus)

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts

Kramer, K. A., Oglesbee, D., Hartman, S. J., Huey, J., Anderson, B., Magera, M. J., Matern, D., Rinaldo, P., Robinson, B. H., Cameron, J. M. & Hahn, S. H., Nov 2005, In : Clinical Chemistry. 51, 11, p. 2110-2116 7 p.

Research output: Contribution to journalArticle

Enzyme activity
Fibroblasts
Electron Transport
Skin
Enzymes
3 Citations (Scopus)

CAP/ACMG proficiency testing for biochemical genetics laboratories: A summary of performance

College of American Pathologists and American College of Medical Genetics, Jan 1 2018, In : Genetics in Medicine. 20, 1, p. 83-90 8 p.

Research output: Contribution to journalArticle

Molecular Biology
Genetic Testing
Total Quality Management
Inborn Errors Metabolism
Pathologists
174 Citations (Scopus)

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

McHugh, D. M. S., Cameron, C. A., Abdenur, J. E., Abdulrahman, M., Adair, O., Al Nuaimi, S. A., Åhlman, H., Allen, J. J., Antonozzi, I., Archer, S., Au, S., Auray-Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, G. B., Berberich, S. L., Binard, R., Boemer, F., Bonham, J. & 226 others, Breen, N. N., Bryant, S. C., Caggana, M., Caldwell, S. G., Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, A. M., Ramos, D. E. C., Chakraborty, P., Chandrasekar, R., Ramos, A. C., Cheillan, D., Chien, Y. H., Childs, T. A., Chrastina, P., Sica, Y. C., Cocho De Juan, J. A., Colandre, M. E., Espinoza, V. C., Corso, G., Currier, R., Cyr, D., Czuczy, N., D'Apolito, O., Davis, T., De Sain-Van Der Velden, M. G., Pecellin, C. D., Di Gangi, I. M., Di Stefano, C. M., Dotsikas, Y., Downing, M., Downs, S. M., Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, B. M., El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, K. F., Fisher, L., Franzson, L., Frazier, D. M., Garcia, L. R. C., Bermejo, M. S. G. V., Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Y. G., Greed, L. C., Grier, R., Grycki, E., Gu, X., Gulamali-Majid, F., Hagar, A. F., Han, L., Hannon, W. H., Haslip, C., Hassan, F. A., He, M., Hietala, A., Himstedt, L., Hoffman, G. L., Hoffman, W., Hoggatt, P., Hopkins, P. V., Hougaard, D. M., Hughes, K., Hunt, P. R., Hwu, W. L., Hynes, J., Ibarra-González, I., Ingham, C. A., Ivanova, M., Jacox, W. B., John, C., Johnson, J. P., Jónsson, J. J., Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kožich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., La Marca, G., Lavochkin, M., Lee, S. Y., Lehotay, D. C., Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd-Puryear, M. A., Lorey, F., Loukas, Y. L., Luedtke, J., Maffitt, N., Magee, J. F., Manning, A., Manos, S., Marie, S., Hadachi, S. M., Marquardt, G., Martin, S. J., Matern, D., Gibson, S. K. M., Mayne, P., McCallister, T. D., McCann, M., McClure, J., McGill, J. J., McKeever, C. D., McNeilly, B., Morrissey, M. A., Moutsatsou, P., Mulcahy, E. A., Nikoloudis, D., Norgaard-Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, S. P., Park, H. D., Pasquali, M., Pasquini, E., Patel, P., Pass, K. A., Peterson, C., Pettersen, R. D., Pitt, J. J., Poh, S., Pollak, A., Porter, C., Poston, P. A., Price, R. W., Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, J. E., Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, J. D., Roberts, A., Rocha, H., Roche, G., Greenberg, C. R., Mellado, J. M. E., Juan-Fita, M. J., Ruiz, C., Ruoppolo, M., Rutledge, S. L., Ryu, E., Saban, C., Sahai, I., García-Blanco, M. I. S., Santiago-Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, M. R., Seeterlin, M. A., Sesser, D. E., Sevier, D. W., Shone, S. M., Sinclair, G., Skrinska, V. A., Stanley, E. L., Strovel, E. T., Jones, A. L. S., Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, J. R., Tomashitis, K., Domingos, M. T., Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, A. G., Vallance, H., Vela-Amieva, M., Vilarinho, L., Von Döbeln, U., Vincent, M. F., Vorster, B. C., Watson, M. S., Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, S. K., Willis, S. A., Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M. & Zakowicz, W. M., Mar 2011, In : Genetics in Medicine. 13, 3, p. 230-254 25 p.

Research output: Contribution to journalArticle

Tandem Mass Spectrometry
Population
Amino Acids
Sensitivity and Specificity
acylcarnitine
94 Citations (Scopus)

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots

Turgeon, C., Magera, M. J., Allard, P., Tortorelli, S., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P. & Matern, D., Apr 1 2008, In : Clinical Chemistry. 54, 4, p. 657-664 8 p.

Research output: Contribution to journalArticle

Screening
Blood
Newborn Infant
Amino Acids
hydrazine
6 Citations (Scopus)

Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

Ali Pervaiz, M., Patterson, M. C., Struys, E. A., Salomons, G. S., Jakobs, C., Oglesbee, D. & Kirmani, S., Aug 2011, In : Journal of Neurology. 258, 8, p. 1564-1565 2 p.

Research output: Contribution to journalArticle

Inborn Metabolic Brain Diseases
Mucopolysaccharidosis III
Alcohol Oxidoreductases
Acetyltransferases
Comorbidity
16 Citations (Scopus)

Composition of single-step media used for human embryo culture

Morbeck, D. E., Baumann, N. A. & Oglesbee, D., Apr 1 2017, In : Fertility and Sterility. 107, 4, p. 1055-1060.e1

Research output: Contribution to journalArticle

Culture Media
Embryonic Structures
Amino Acids
Blastocyst
Oxygen
48 Citations (Scopus)

Confirming variants in next-generation sequencing panel testing by sanger sequencing

Baudhuin, L. M., Lagerstedt, S. A., Klee, E. W., Fadra, N., Oglesbee, D. & Ferber, M. J., Jul 1 2015, In : Journal of Molecular Diagnostics. 17, 4, p. 456-461 6 p.

Research output: Contribution to journalArticle

Genome
Nucleotides
Practice Guidelines
Genes
DNA
Cadherins
Axons
Agenesis of Corpus Callosum
Calcium
Cell Adhesion
28 Citations (Scopus)

Design and analytical validation of clinical DNA sequencing assays

Pont-Kingdon, G., Gedge, F., Wooderchak-Donahue, W., Schrijver, I., Weck, K. E., Kant, J. A., Oglesbee, D., Bayrak-Toydemir, P. & Lyon, E., Jan 1 2012, In : Archives of Pathology and Laboratory Medicine. 136, 1, p. 41-46 6 p.

Research output: Contribution to journalArticle

DNA Sequence Analysis
Guidelines
Mutation
Genes
67 Citations (Scopus)

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry

Turgeon, C. T., Magera, M. J., Cuthbert, C. D., Loken, P. R., Gavrilov, D. K., Tortorelli, S., Raymond, K. M., Oglesbee, D., Rinaldo, P. & Matern, D., Nov 2010, In : Clinical Chemistry. 56, 11, p. 1686-1695 10 p.

Research output: Contribution to journalArticle

Methylmalonic Acid
propionylcarnitine
Homocysteine
Tandem Mass Spectrometry
Mass spectrometry
29 Citations (Scopus)

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Oglesbee, D., He, M., Majumder, N., Vockley, J., Ahmad, A., Angle, B., Burton, B., Charrow, J., Ensenauer, R., Ficicioglu, C. H., Keppen, L. D., Marsden, D., Tortorelli, S., Hahn, S. H. & Matern, D., Feb 2007, In : Genetics in Medicine. 9, 2, p. 108-116 9 p.

Research output: Contribution to journalArticle

Newborn Infant
Butyryl-CoA Dehydrogenase
Urine
Isobutyryl-CoA dehydrogenase deficiency
acylcarnitine
74 Citations (Scopus)

Disease-causing mitochondrial Heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS

Folmes, C., Martinez-Fernandez, A., Perales-Clemente, E., Li, X., McDonald, A., Oglesbee, D., Hrstka, S. C., Terzic, C. M., Terzic, A. & Nelson, T. J., Jul 2013, In : Stem Cells. 31, 7, p. 1298-1308 11 p.

Research output: Contribution to journalArticle

MELAS Syndrome
Induced Pluripotent Stem Cells
Mitochondrial Diseases
Mitochondrial DNA
Clone Cells
63 Citations (Scopus)

Enhanced interpretation of newborn screening results without analyte cutoff values

Marquardt, G., Currier, R., McHugh, D. M. S., Gavrilov, D., Magera, M. J., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., Smith, E. H., Tortorelli, S., Turgeon, C. T., Lorey, F., Wilcken, B., Wiley, V., Greed, L. C., Lewis, B., Boemer, F., Schoos, R., Marie, S. & 107 others, Vincent, M. F., Sica, Y. C., Domingos, M. T., Al-Thihli, K., Sinclair, G., Al-Dirbashi, O. Y., Chakraborty, P., Dymerski, M., Porter, C., Manning, A., Seashore, M. R., Quesada, J., Reuben, A., Chrastina, P., Hornik, P., Atef Mandour, I., Atty Sharaf, S. A., Bodamer, O., Dy, B., Torres, J., Zori, R., Cheillan, D., Vianey-Saban, C., Ludvigson, D., Stembridge, A., Bonham, J., Downing, M., Dotsikas, Y., Loukas, Y. L., Papakonstantinou, V., Zacharioudakis, G. S. A., Baráth, K., Karg, E., Franzson, L., Jonsson, J. J., Breen, N. N., Lesko, B. G., Berberich, S. L., Turner, K., Ruoppolo, M., Scolamiero, E., Antonozzi, I., Carducci, C., Caruso, U., Cassanello, M., La Marca, G., Pasquini, E., Di Gangi, I. M., Giordano, G., Camilot, M., Teofoli, F., Manos, S. M., Peterson, C. K., Mayfield Gibson, S. K., Sevier, D. W., Lee, S. Y., Park, H. D., Khneisser, I., Browning, P., Gulamali-Majid, F., Watson, M. S., Eaton, R. B., Sahai, I., Ruiz, C., Torres, R., Seeterlin, M. A., Stanley, E. L., Hietala, A., McCann, M., Campbell, C., Hopkins, P. V., De Sain-Van Der Velden, M. G., Elvers, B., Morrissey, M. A., Sunny, S., Knoll, D., Webster, D., Frazier, D. M., McClure, J. D., Sesser, D. E., Willis, S. A., Rocha, H., Vilarinho, L., John, C., Lim, J., Caldwell, S. G., Tomashitis, K., Castĩeiras Ramos, D. E., Cocho De Juan, J. A., Rueda Fernández, I., Yahyaoui MacÍas, R., Egea-Mellado, J. M., González-Gallego, I., Delgado Pecellin, C., García-Valdecasas Bermejo, M. S., Chien, Y. H., Hwu, W. L., Childs, T., McKeever, C. D., Tanyalcin, T., Abdulrahman, M., Queijo, C., Lemes, A., Davis, T., Hoffman, W., Mei, B. & Hoffman, G. L., Jul 2012, In : Genetics in Medicine. 14, 7, p. 648-655 8 p.

Research output: Contribution to journalArticle

Tandem Mass Spectrometry
Reference Values
Differential Diagnosis
Fatty Acids
Software
Open Access
Coloboma
Medical Genetics
Intellectual Disability
Names
Epilepsy
1 Citation (Scopus)

Erratum: Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh (PLoS genetics (2019) 15 3 (e1007984))

Pierce, B. L., Tong, L., Dean, S., Argos, M., Jasmine, F., Rakibuz-Zaman, M., Sarwar, G., Islam, M. T., Shahriar, H., Islam, T., Rahman, M., Yunus, M., Lynch, V. J., Oglesbee, D., Graziano, J. H., Kibriya, M. G., Gamble, M. V. & Ahsan, H., May 1 2019, In : PLoS genetics. 15, 5, p. e1008172

Research output: Contribution to journalComment/debate

Open Access
Bangladesh
Arsenic
arsenic
phenotype
metabolism
6 Citations (Scopus)

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

Oglesbee, D., Kroll, C., Gakh, O., Deutsch, E. C., Lynch, D. R., Gavrilova, R. M., Tortorelli, S., Raymond, K., Gavrilov, D., Rinaldo, P., Matern, D. & Isaya, G., Oct 2013, In : Clinical Chemistry. 59, 10, p. 1461-1469 9 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Immunoassay
Blood
Throughput
Ceruloplasmin
10 Citations (Scopus)

Homogentisic acid interference in routine urine creatinine determination

Loken, P. R., Magera, M. J., Introne, W., Tortorelli, S., Gavrilov, D., Oglesbee, D., Rinaldo, P., Matern, D. & Raymond, K., May 2010, In : Molecular Genetics and Metabolism. 100, 1, p. 103-104 2 p.

Research output: Contribution to journalArticle

Homogentisic Acid
Creatinine
Urine
Alkaptonuria

Human genetic disorders

Volk, A. K., Mitchell, E. B., Thomas, B. C., Runke, C. K., Essendrup, A. A., Kotzer, K. E., Deyle, D. R., Coon, L., Pruthi, R. K., Oglesbee, D., Zetzsche, L., Kemppainen, J. & Gavrilova, R. M., Feb 13 2016, Essentials of Anatomic Pathology: Fourth Edition. Springer International Publishing, p. 595-663 69 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Genetic Diseases
Medical Genetics
623 Citations (Scopus)

Investigating Mitochondrial Redox Potential with Redox-sensitive Green Fluorescent Protein Indicators

Hanson, G. T., Aggeler, R., Oglesbee, D., Cannon, M., Capaldi, R. A., Tsien, R. Y. & Remington, S. J., Mar 26 2004, In : Journal of Biological Chemistry. 279, 13, p. 13044-13053 10 p.

Research output: Contribution to journalArticle

Green Fluorescent Proteins
Oxidation-Reduction
HeLa Cells
Mitochondria
Fluorescence
1 Citation (Scopus)

Laboratory diagnosis of inborn errors of metabolism

Oglesbee, D. & Rinaldo, P., Jan 1 2007, Liver Disease in Children, Third Edition. Cambridge University Press, p. 531-544 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Errors Metabolism
Clinical Laboratory Techniques
Inborn Errors Amino Acid Metabolism
Fatty Acids
Metabolic Diseases

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Neural Tube Defects
Clinical Laboratory Techniques
Genomics
Pregnancy
Spina Bifida Cystica
33 Citations (Scopus)

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

Turgeon, C. T., Orsini, J. J., Sanders, K. A., Magera, M. J., Langan, T. J., Escolar, M. L., Duffner, P., Oglesbee, D., Gavrilov, D., Tortorelli, S., Rinaldo, P., Raymond, K. & Matern, D., Oct 1 2015, In : Journal of Inherited Metabolic Disease. 38, 5, p. 923-929 7 p.

Research output: Contribution to journalArticle

Psychosine
Globoid Cell Leukodystrophy
Newborn Infant
Galactosylceramidase
Liquid Chromatography
3 Citations (Scopus)

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Unique presenting laboratory values and a review of biochemical and clinical features

Conboy, E., Vairo, F., Schultz, M., Agre, K., Ridsdale, R., Deyle, D. R., Oglesbee, D., Gavrilov, D., Klee, E. W. & Lanpher, B., Jan 1 2018, JIMD Reports. Springer, p. 63-69 7 p. (JIMD Reports; vol. 40).

Research output: Chapter in Book/Report/Conference proceedingChapter

Hydroxymethylglutaryl-CoA Synthase
HDL Cholesterol
Organic acids
Biomarkers
Fasting
4 Citations (Scopus)

Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder

Frye, M. A., Ryu, E., Nassan, M., Jenkins, G. D., Andreazza, A. C., Evans, J. M., McElroy, S. L., Oglesbee, D., Highsmith, W. E. J. & Biernacka, J. M., Jan 1 2017, In : Journal of Psychiatric Research. 84, p. 221-226 6 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Bipolar Disorder
Psychotic Disorders
Genes
Phenotype
1 Citation (Scopus)

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

Tortorelli, S., Eckerman, J. S., Orsini, J. J., Stevens, C., Hart, J., Hall, P. L., Alexander, J. J., Gavrilov, D., Oglesbee, D., Raymond, K., Matern, D. & Rinaldo, P., Aug 1 2018, In : Genetics in Medicine. 20, 8, p. 840-846 7 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Incidental Findings
Creatine
Creatinine
Genotype
4 Citations (Scopus)

Multiplex droplet digital PCR method applicable to newborn screening, carrier status, and assessment of spinal muscular atrophy

Vidal-Folch, N., Gavrilov, D., Raymond, K., Rinaldo, P., Tortorelli, S., Matern, D. & Oglesbee, D., Dec 1 2018, In : Clinical Chemistry. 64, 12, p. 1753-1761 9 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Screening
Blood
Newborn Infant
Polymerase Chain Reaction
21 Citations (Scopus)

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability

Perales-Clemente, E., Cook, A. N., Evans, J. M., Roellinger, S., Secreto, F., Emmanuele, V., Oglesbee, D., Mootha, V. K., Hirano, M., Schon, E. A., Terzic, A. & Nelson, T. J., 2016, (Accepted/In press) In : EMBO Journal.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Mitochondrial DNA
Mitochondria
Stem cells
Clone Cells
1 Citation (Scopus)

Newborn screening by tandem mass spectrometry and molecular confirmation

Hofherr, S. & Oglesbee, D., Jan 1 2014, Molecular Diagnostics: 12 Tests That Changed Everything. Springer New York, p. 209-222 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Tandem Mass Spectrometry
47 Citations (Scopus)

Newborn screening for lysosomal storage disorders

Matern, D., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P. & Tortorelli, S., Apr 1 2015, In : Seminars in Perinatology. 39, 3, p. 206-216 11 p.

Research output: Contribution to journalArticle

Gaucher Disease
Type B Niemann-Pick Disease
Globoid Cell Leukodystrophy
Mucopolysaccharidosis II
Glycogen Storage Disease Type II
28 Citations (Scopus)

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Matern, D., Oglesbee, D. & Tortorelli, S., 2013, In : Developmental Disabilities Research Reviews. 17, 3, p. 247-253 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Friedreich Ataxia
Hepatolenticular Degeneration
Premature Mortality
Public Health
13 Citations (Scopus)

Normal Muscle Respiratory Chain Enzymes Can Complicate Mitochondrial Disease Diagnosis

Oglesbee, D., Freedenberg, D., Kramer, K. A., Anderson, B. D. & Hahn, S. H., Oct 1 2006, In : Pediatric Neurology. 35, 4, p. 289-292 4 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Electron Transport
Muscles
Enzymes
Fibroblasts
51 Citations (Scopus)

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Lazaridis, K. N., Schahl, K. A., Cousin, M. A., Babovic-Vuksanovic, D., Riegert-Johnson, D. L., Gavrilova, R. M., McAllister, T. M., Lindor, N. M., Abraham, R. S., Ackerman, M. J., Pichurin, P. N., Deyle, D. R., Gavrilov, D. K., Hand, J. L., Klee, E. W., Stephens, M. C., Wick, M. J., Atkinson, E. J., Linden, D. R., Ferber, M. J. & 19 others, Wieben, E. D., Farrugia, G., Baudhuin, L. M., Beck, S. A., Beek, G. J., Go, R. S., Guthrie, K. J., Hovan, M. J., Hunt, K. S., Kemppainen, J. L., Kruisselbrink, T. M., McCormick, J. B., McLaughlin, B. M., Murphree, M. I., Niewold, T. B., Oglesbee, D., Reed, A., Thibodeau, S. N. & Thorland, E. C., Mar 1 2016, In : Mayo Clinic Proceedings. 91, 3, p. 297-307 11 p.

Research output: Contribution to journalArticle

Exome
Precision Medicine
Inborn Genetic Diseases
Insurance Coverage
Medicaid
7 Citations (Scopus)

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Wong, D., Tortorelli, S., Bishop, L., Sellars, E. A., Schimmenti, L. A., Gallant, N., Prada, C. E., Hopkin, R. J., Leslie, N. D., Berry, S. A., Rosenblatt, D. S., Fair, A. L., Matern, D., Raymond, K., Oglesbee, D., Rinaldo, P. & Gavrilov, D., Feb 1 2016, In : Genetics in Medicine. 18, 2, p. 162-167 6 p.

Research output: Contribution to journalArticle

Homocysteine
Newborn Infant
Methionine
Early Diagnosis
Therapeutics
18 Citations (Scopus)

Precision newborn screening for lysosomal disorders

Minter Baerg, M. M., Stoway, S. D., Hart, J., Mott, L., Peck, D. S., Nett, S. L., Eckerman, J. S., Lacey, J. M., Turgeon, C. T., Gavrilov, D., Oglesbee, D., Raymond, K., Tortorelli, S., Matern, D., Mørkrid, L. & Rinaldo, P., Aug 1 2018, In : Genetics in Medicine. 20, 8, p. 847-854 8 p.

Research output: Contribution to journalArticle

Globoid Cell Leukodystrophy
Glycogen Storage Disease Type II
Newborn Infant
Mucopolysaccharidosis I
Informatics
115 Citations (Scopus)

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007)

Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D. & Rinaldo, P., Aug 2007, In : Journal of Inherited Metabolic Disease. 30, 4, p. 585-592 8 p.

Research output: Contribution to journalArticle

Newborn Infant
Maple Syrup Urine Disease
Tyrosinemias
Homocystinuria
Congenital Adrenal Hyperplasia
67 Citations (Scopus)

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)

Oglesbee, D., Sanders, K. A., Lacey, J. M., Magera, M. J., Casetta, B., Strauss, K. A., Tortorelli, S., Rinaldo, P. & Matern, D., Mar 1 2008, In : Clinical Chemistry. 54, 3, p. 542-549 8 p.

Research output: Contribution to journalArticle

Maple Syrup Urine Disease
Branched Chain Amino Acids
Isoleucine
Screening
Blood
6 Citations (Scopus)

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Blackburn, P. R., Hickey, R., Nace, R. A., Giama, N. H., Kraft, D. L., Bordner, A. J., Chaiteerakij, R., McCormick, J. B., Radulovic, M., Graham, R., Torbenson, M., Tortorelli, S., Scott, C. R., Lindor, N. M., Milliner, D. S., Oglesbee, D., Al-Qabandi, W., Grompe, M., Gavrilov, D. K., El-Youssef, M. & 5 others, Clark, K. J., Atwal, P. S., Roberts, L. R., Klee, E. W. & Ekker, S. C., Oct 1 2016, In : Human Mutation. 37, 10, p. 1097-1105 9 p.

Research output: Contribution to journalArticle

Tyrosinemias
Liver Cirrhosis
Tyrosine
Hepatocellular Carcinoma
Fibrosis
13 Citations (Scopus)

Simultaneous testing for 6 lysosomal storage disorders and x-adrenoleukodystrophy in dried blood spots by tandem mass spectrometry

Tortorelli, S., Turgeon, C. T., Gavrilov, D. K., Oglesbee, D., Raymond, K. M., Rinaldo, P. & Matern, D., Sep 1 2016, In : Clinical Chemistry. 62, 9, p. 1248-1254 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Tandem Mass Spectrometry
Peroxisomal Disorders
Mass spectrometry
Blood
25 Citations (Scopus)

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D. & Tortorelli, S., Jan 1 2015, In : Molecular Genetics and Metabolism. 114, 1, p. 46-50 5 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Lysophosphatidylcholines
Screening
Blood
Newborn Infant
85 Citations (Scopus)

The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification

Murray, J., Zhang, B., Taylor, S. W., Oglesbee, D., Fahy, E., Marusich, M. F., Ghosh, S. S. & Capaldi, R. A., Apr 18 2003, In : Journal of Biological Chemistry. 278, 16, p. 13619-13622 4 p.

Research output: Contribution to journalArticle

NADH Dehydrogenase
Chemical analysis
Peptides
Proteins
Mass spectrometry
4 Citations (Scopus)

Third generation GFP biosensors for real time readout of pH and redox potential in living cells

Remington, S. J., Hanson, G. T., Canon, M., Aggeler, R., Oglesbee, D., Capaldi, R. A. & Tsien, R. Y., Nov 16 2004, In : Proceedings of SPIE - The International Society for Optical Engineering. 5329, p. 1-12 12 p.

Research output: Contribution to journalConference article

Biosensor
bioinstrumentation
Biosensors
readout
Cells