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Items: 43

1.

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.

Clin Chem. 2018 Oct 23. pii: clinchem.2018.293712. doi: 10.1373/clinchem.2018.293712. [Epub ahead of print]

PMID:
30352867
2.

Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Wolfe L, Jethva R, Oglesbee D, Vockley J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Sep 22 [updated 2018 Aug 9].

3.

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

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D.

Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11.

4.

Precision newborn screening for lysosomal disorders.

Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P.

Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9.

PMID:
29120458
5.

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

Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P.

Genet Med. 2018 Aug;20(8):840-846. doi: 10.1038/gim.2017.190. Epub 2017 Nov 2.

PMID:
29095812
6.

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, Oglesbee D, Gavrilov D, Klee EW, Lanpher B.

JIMD Rep. 2018;40:63-69. doi: 10.1007/8904_2017_59. Epub 2017 Oct 14.

7.

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 RS, Oglesbee D.

J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011.

PMID:
28826609
8.

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

Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE.

Genet Med. 2018 Jan;20(1):83-90. doi: 10.1038/gim.2017.61. Epub 2017 Jun 29.

9.

Composition of single-step media used for human embryo culture.

Morbeck DE, Baumann NA, Oglesbee D.

Fertil Steril. 2017 Apr;107(4):1055-1060.e1. doi: 10.1016/j.fertnstert.2017.01.007. Epub 2017 Feb 24.

PMID:
28238490
10.

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

Frye MA, Ryu E, Nassan M, Jenkins GD, Andreazza AC, Evans JM, McElroy SL, Oglesbee D Jr, Highsmith WE, Biernacka JM.

J Psychiatr Res. 2017 Jan;84:221-226. doi: 10.1016/j.jpsychires.2016.09.027. Epub 2016 Sep 30.

PMID:
27770741
11.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D.

Clin Chem. 2016 Sep;62(9):1248-54. doi: 10.1373/clinchem.2016.256255. Epub 2016 Jul 20.

12.

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

Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ.

EMBO J. 2016 Sep 15;35(18):1979-90. doi: 10.15252/embj.201694892. Epub 2016 Jul 19.

13.

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

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.

Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8.

14.

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.

Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ.

J Mol Diagn. 2015 Jul;17(4):456-61. doi: 10.1016/j.jmoldx.2015.03.004. Epub 2015 May 8.

PMID:
25960255
15.

Newborn screening for lysosomal storage disorders.

Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Review.

PMID:
25891428
16.

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

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
17.

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

Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D.

J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12.

PMID:
25762404
18.

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

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S.

Mol Genet Metab. 2015 Jan;114(1):46-50. doi: 10.1016/j.ymgme.2014.11.013. Epub 2014 Nov 27.

PMID:
25481105
19.

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.

Deutsch EC, Oglesbee D, Greeley NR, Lynch DR.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):994-1002. doi: 10.1136/jnnp-2013-306788. Epub 2014 Jan 24.

PMID:
24463479
20.

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

Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G.

Clin Chem. 2013 Oct;59(10):1461-9. doi: 10.1373/clinchem.2013.207472. Epub 2013 Jul 9.

21.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Matern D, Oglesbee D, Tortorelli S.

Dev Disabil Res Rev. 2013;17(3):247-53. doi: 10.1002/ddrr.1117. Review.

22.

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.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):176-8. doi: 10.1016/j.ymgme.2013.04.004. Epub 2013 Apr 10.

PMID:
23628460
23.

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

Folmes CD, Martinez-Fernandez A, Perales-Clemente E, Li X, McDonald A, Oglesbee D, Hrstka SC, Perez-Terzic C, Terzic A, Nelson TJ.

Stem Cells. 2013 Jul;31(7):1298-308. doi: 10.1002/stem.1389.

24.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
25.

Design and analytical validation of clinical DNA sequencing assays.

Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists.

Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA.

PMID:
22208486
26.

Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.

Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S.

J Neurol. 2011 Aug;258(8):1564-5. doi: 10.1007/s00415-011-5977-1. Epub 2011 Mar 8. No abstract available.

PMID:
21384162
27.

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

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.

Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.

PMID:
21325949
28.

Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function.

Kochar O, Wick MR, Kerr SE, Oglesbee D, Cathro HP.

Ultrastruct Pathol. 2011 Apr;35(2):92-6. doi: 10.3109/01913123.2010.538136.

PMID:
21299350
29.

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4.

PMID:
20821052
30.

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

Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D.

Clin Chem. 2010 Nov;56(11):1686-95. doi: 10.1373/clinchem.2010.148957. Epub 2010 Aug 31.

31.

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

Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D.

Mol Genet Metab. 2010 Jul;100(3):241-50. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8.

PMID:
20434380
32.

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

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK.

J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14.

PMID:
20394947
33.

Homogentisic acid interference in routine urine creatinine determination.

Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K.

Mol Genet Metab. 2010 May;100(1):103-4. doi: 10.1016/j.ymgme.2010.01.006. Epub 2010 Jan 21.

PMID:
20138792
34.

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

Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D.

Clin Chem. 2008 Apr;54(4):657-64. doi: 10.1373/clinchem.2007.101949. Epub 2008 Feb 15.

35.

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 KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D.

Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4.

36.

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.

J Inherit Metab Dis. 2007 Aug;30(4):585-92. Epub 2007 Jul 23.

PMID:
17643193
37.

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 CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D.

Genet Med. 2007 Feb;9(2):108-16.

PMID:
17304052
38.

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH.

Pediatr Neurol. 2006 Oct;35(4):289-92.

PMID:
16996407
39.

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

Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH.

Clin Chem. 2005 Nov;51(11):2110-6. Epub 2005 Sep 1.

40.

An overview of peroxisomal biogenesis disorders.

Oglesbee D.

Mol Genet Metab. 2005 Apr;84(4):299-301. Review. No abstract available.

PMID:
15875330
41.

Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators.

Hanson GT, Aggeler R, Oglesbee D, Cannon M, Capaldi RA, Tsien RY, Remington SJ.

J Biol Chem. 2004 Mar 26;279(13):13044-53. Epub 2004 Jan 13.

42.

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

Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA.

J Biol Chem. 2003 Apr 18;278(16):13619-22. Epub 2003 Feb 28.

43.

A replicating module as the unit of mitochondrial structure and functioning.

Capaldi RA, Aggeler R, Gilkerson R, Hanson G, Knowles M, Marcus A, Margineantu D, Marusich M, Murray J, Oglesbee D, Remington SJ, Rossignol R.

Biochim Biophys Acta. 2002 Sep 10;1555(1-3):192-5.

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