Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators GT Hanson, R Aggeler, D Oglesbee, M Cannon, RA Capaldi, RY Tsien, ... Journal of Biological Chemistry 279 (13), 13044-13053, 2004 | 1160 | 2004 |
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ... Genetics in Medicine 13 (3), 230-254, 2011 | 379 | 2011 |
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007) D Matern, S Tortorelli, D Oglesbee, D Gavrilov, P Rinaldo Journal of inherited metabolic disease 30, 585-592, 2007 | 238 | 2007 |
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots C Turgeon, MJ Magera, P Allard, S Tortorelli, D Gavrilov, D Oglesbee, ... Clinical chemistry 54 (4), 657-664, 2008 | 171 | 2008 |
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry CT Turgeon, MJ Magera, CD Cuthbert, PR Loken, DK Gavrilov, ... Clinical chemistry 56 (11), 1686-1695, 2010 | 149 | 2010 |
Confirming variants in next-generation sequencing panel testing by Sanger sequencing LM Baudhuin, SA Lagerstedt, EW Klee, N Fadra, D Oglesbee, MJ Ferber The Journal of Molecular Diagnostics 17 (4), 456-461, 2015 | 142 | 2015 |
Enhanced interpretation of newborn screening results without analyte cutoff values G Marquardt, R Currier, D McHugh, D Gavrilov, MJ Magera, D Matern, ... Genetics in medicine 14 (7), 648-655, 2012 | 142 | 2012 |
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification J Murray, B Zhang, SW Taylor, D Oglesbee, E Fahy, MF Marusich, ... Journal of Biological Chemistry 278 (16), 13619-13622, 2003 | 141 | 2003 |
Newborn screening for lysosomal storage disorders D Matern, D Gavrilov, D Oglesbee, K Raymond, P Rinaldo, S Tortorelli Seminars in perinatology 39 (3), 206-216, 2015 | 139 | 2015 |
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) D Oglesbee, KA Sanders, JM Lacey, MJ Magera, B Casetta, KA Strauss, ... Clinical chemistry 54 (3), 542-549, 2008 | 130 | 2008 |
Precision newborn screening for lysosomal disorders MM Minter Baerg, SD Stoway, J Hart, L Mott, DS Peck, SL Nett, ... Genetics in Medicine 20 (8), 847-854, 2018 | 121 | 2018 |
Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS CDL Folmes, A Martinez-Fernandez, E Perales-Clemente, X Li, ... Stem Cells 31 (7), 1298-1308, 2013 | 119 | 2013 |
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity R Sharma, B Reinstadler, K Engelstad, OS Skinner, E Stackowitz, ... The Journal of clinical investigation 131 (2), 2021 | 111 | 2021 |
Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the Mayo Clinic experience KN Lazaridis, KA Schahl, MA Cousin, D Babovic-Vuksanovic, ... Mayo Clinic Proceedings 91 (3), 297-307, 2016 | 105 | 2016 |
Composition of single-step media used for human embryo culture DE Morbeck, NA Baumann, D Oglesbee Fertility and sterility 107 (4), 1055-1060. e1, 2017 | 88 | 2017 |
Natural underlying mt DNA heteroplasmy as a potential source of intra‐person hi PSC variability E Perales‐Clemente, AN Cook, JM Evans, S Roellinger, F Secreto, ... The EMBO journal 35 (18), 1979-1990, 2016 | 88 | 2016 |
Measurement of psychosine in dried blood spots—a possible improvement to newborn screening programs for Krabbe disease CT Turgeon, JJ Orsini, KA Sanders, MJ Magera, TJ Langan, ML Escolar, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 72 | 2015 |
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing EH Smith, C Thomas, D McHugh, D Gavrilov, K Raymond, P Rinaldo, ... Molecular genetics and metabolism 100 (3), 241-250, 2010 | 72 | 2010 |
m. 3243A> G-induced mitochondrial dysfunction impairs human neuronal development and reduces neuronal network activity and synchronicity TMK Gunnewiek, EJH Van Hugte, M Frega, GS Guardia, K Foreman, ... Cell reports 31 (3), 2020 | 64 | 2020 |
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts KA Kramer, D Oglesbee, SJ Hartman, J Huey, B Anderson, MJ Magera, ... Clinical chemistry 51 (11), 2110-2116, 2005 | 64 | 2005 |