• 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
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Article
2019
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

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
Cadherins
Axons
Agenesis of Corpus Callosum
Calcium
Cell Adhesion

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

VarSight: Prioritizing clinically reported variants with binary classification algorithms

Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P. & 259 others, Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In : BMC bioinformatics. 20, 1, 496.

Research output: Contribution to journalArticle

Open Access
Binary Classification
Classification Algorithm
Prioritization
Classifiers
Classifier
2018
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
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
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
2017
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
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
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
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
2016
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
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
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
2015
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
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
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
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
2014
6 Citations (Scopus)

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

Deutsch, E. C., Oglesbee, D., Greeley, N. R. & Lynch, D. R., Jan 1 2014, In : Journal of Neurology, Neurosurgery and Psychiatry. 85, 9, p. 994-1002 9 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Immunoassay
Cheek
Mitochondrial Proteins
Natural History
2013
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
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
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
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
2012
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
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
2011
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
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
7 Citations (Scopus)

Unexpected fabry disease in a renal allograft kidney: An underrecognized cause of poor allograft function

Kochar, O., Wick, M. R., Kerr, S. E., Oglesbee, D. & Cathro, H. P., Apr 1 2011, In : Ultrastructural Pathology. 35, 2, p. 92-96 5 p.

Research output: Contribution to journalArticle

Fabry Disease
Allografts
Kidney
Tissue Donors
Galactosidases
2010
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
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
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
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
26 Citations (Scopus)

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

Tortorelli, S., Turgeon, C. T., Lim, J. S., Baumgart, S., Day-Salvatore, D. L., Abdenur, J., Bernstein, J. A., Lorey, F., Lichter-Konecki, U., Oglesbee, D., Raymond, K., Matern, D., Schimmenti, L., Rinaldo, P. & Gavrilov, D. K., 2010, In : Journal of Pediatrics. 157, 2, p. 271-275 5 p.

Research output: Contribution to journalArticle

Tandem Mass Spectrometry
Newborn Infant
Population
Methionine
Homocysteine
2008
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
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
2007
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
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
2006
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
2005
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
2004
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
2003
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
2002
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