Publications by authors named "Devin Oglesbee"

59Publications

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Authors:
Rohit Sharma Bryn Reinstadler Kristin Engelstad Owen S Skinner Erin Stackowitz Ronald G Haller Clary B Clish Kerry Pierce Melissa A Walker Robert Fryer Devin Oglesbee Xiangling Mao Dikoma C Shungu Ashok Khatri Michio Hirano Darryl C De Vivo Vamsi K Mootha

J Clin Invest 2021 01;131(2)

Howard Hughes Medical Institute, Department of Molecular Biology, and.

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January 2021

Bile Acid Profiles in Primary Sclerosing Cholangitis and their Ability to Predict Hepatic Decompensation.

Authors:
Omar Y Mousa Brian D Juran Bryan M McCauley Mette N Vesterhus Trine Folseraas Coleman T Turgeon Ahmad H Ali Erik M Schlicht Elizabeth J Atkinson Chang Hu Denise Harnois Elizabeth J Carey Andrea A Gossard Devin Oglesbee John E Eaton Nicholas F LaRusso Gregory J Gores Tom H Karlsen Konstantinos N Lazaridis

Hepatology 2020 Nov 23. Epub 2020 Nov 23.

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, United States.

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November 2020

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism.

Authors:
Dimitar K Gavrilov Amy L Piazza Gisele Pino Coleman Turgeon Dietrich Matern Devin Oglesbee Kimiyo Raymond Silvia Tortorelli Piero Rinaldo

Int J Neonatal Screen 2020 Jun 10;6(2):33. Epub 2020 Apr 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (A.L.P.); (G.P.); (C.T.); (D.M.); (D.O.); (K.R.); (S.T.); (P.R.).

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June 2020

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Authors:
Dawn S Peck Jean M Lacey Amy L White Gisele Pino April L Studinski Rachel Fisher Ayesha Ahmad Linda Spencer Sarah Viall Natalie Shallow Amy Siemon J Austin Hamm Brianna K Murray Kelly L Jones Dimitar Gavrilov Devin Oglesbee Kimiyo Raymond Dietrich Matern Piero Rinaldo Silvia Tortorelli

Int J Neonatal Screen 2020 Mar 7;6(1):10. Epub 2020 Feb 7.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (J.M.L.); (A.L.W.); (G.P.); (A.L.S.); (D.G.); (D.O.); (K.R.); (D.M.); (P.R.).

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March 2020

Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:
Marcus J Miller Kristina Cusmano-Ozog Devin Oglesbee Sarah Young

Genet Med 2020 Oct 19. Epub 2020 Oct 19.

Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.

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October 2020

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.

Authors:
Sheri A Poskanzer Matthew J Schultz Coleman T Turgeon Noemi Vidal-Folch Kris Liedtke Devin Oglesbee Dimitar K Gavrilov Silvia Tortorelli Dietrich Matern Piero Rinaldo James T Bennett Jenny M Thies Irene J Chang Anita E Beck Kimiyo Raymond Eric J Allenspach Christina Lam

Am J Med Genet A 2021 01 12;185(1):213-218. Epub 2020 Oct 12.

Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA.

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January 2021

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

Authors:
Karen A Sanders Dimitar K Gavrilov Devin Oglesbee Kimiyo M Raymond Silvia Tortorelli John J Hopwood Fred Lorey Ramanath Majumdar Charles A Kroll Amber M McDonald Jean M Lacey Coleman T Turgeon Justin N Tucker Hao Tang Robert Currier Grazia Isaya Piero Rinaldo Dietrich Matern

Int J Neonatal Screen 2020 Jun 30;6(2). Epub 2020 May 30.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

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June 2020

Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study.

Authors:
Muhammad Yasir Qureshi Marc C Patterson Vicki Clark Jonathan N Johnson Margaret A Moutvic Sherilyn W Driscoll Jennifer L Kemppainen John Huston Jeff R Anderson Andrew D Badley Peter J Tebben Philip Wackel Devin Oglesbee James Glockner George Schreiner Sundeep Dugar Jillienne C Touchette Ralitza H Gavrilova

J Inherit Metab Dis 2020 Jul 16. Epub 2020 Jul 16.

Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

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July 2020

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Authors:
Matthew J Schultz Brian C Netzel Rani H Singh Gisele B Pino Dimitar K Gavrilov Devin Oglesbee Kimiyo M Raymond Piero Rinaldo Silvia Tortorelli Wendy E Smith Dietrich Matern

Mol Genet Metab 2020 08 6;130(4):247-254. Epub 2020 Jun 6.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address:

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August 2020

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.

Authors:
Teun M Klein Gunnewiek Eline J H Van Hugte Monica Frega Gemma Solé Guardia Katharina Foreman Daan Panneman Britt Mossink Katrin Linda Jason M Keller Dirk Schubert David Cassiman Richard Rodenburg Noemi Vidal Folch Devin Oglesbee Ester Perales-Clemente Timothy J Nelson Eva Morava Nael Nadif Kasri Tamas Kozicz

Cell Rep 2020 04;31(3):107538

Department of Anatomy, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500 HB Nijmegen, the Netherlands; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, 55905 Rochester, MN, USA. Electronic address:

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April 2020

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.

Authors:
Tracy L McGregor Karen A Hunt Elaine Yee Dan Mason Paul Nioi Simina Ticau Marissa Pelosi Perry R Loken Sarah Finer Deborah A Lawlor Eric B Fauman Qin Qin Huang Christopher J Griffiths Daniel G MacArthur Richard C Trembath Devin Oglesbee John C Lieske David V Erbe John Wright David A van Heel

Elife 2020 Mar 24;9. Epub 2020 Mar 24.

Blizard Institute and Institute for Population Health Sciences, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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March 2020

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:
Sarah T South Michelle McClure Caroline Astbury Michael T Bashford Judith Benkendorf Edward D Esplin Kristin G Monaghan Devin Oglesbee V Reid Sutton Michael S Watson

Genet Med 2020 Jun 4;22(6):983-985. Epub 2020 Mar 4.

American College of Medical Genetics and Genomics, Bethesda, MD, USA.

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June 2020

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Authors:
Adam J Guenzel Coleman T Turgeon Kim K Nickander Amy L White Dawn S Peck Gisele B Pino April L Studinski Vinod K Prasad Joanne Kurtzberg Maria L Escolar Maria Laura Duque Lasio Joan E Pellegrino Ai Sakonju Rachel E Hickey Natalie M Shallow Margie A Ream Joseph J Orsini Michael H Gelb Kimiyo Raymond Dimitar K Gavrilov Devin Oglesbee Piero Rinaldo Silvia Tortorelli Dietrich Matern

Genet Med 2020 Jun 24;22(6):1108-1118. Epub 2020 Feb 24.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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June 2020

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

Authors:
Gisele Pino Erin Conboy Silvia Tortorelli Sara Minnich Kim Nickander Jean Lacey Dawn Peck April Studinski Amy White Dimitar Gavrilov Piero Rinaldo Dietrich Matern Devin Oglesbee Roberto Giugliani Maira Burin Kimiyo Raymond

Mol Genet Metab 2020 02 5;129(2):106-110. Epub 2019 Nov 5.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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February 2020

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

Authors:
Glenn E Palomaki Caleb Bupp Anthony R Gregg Mary E Norton Devin Oglesbee Robert G Best

Genet Med 2020 03 8;22(3):462-474. Epub 2019 Nov 8.

University of South Carolina SOM Greenville, Greenville, SC, USA.

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March 2020

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

Authors:
Gavin R Oliver Xiaojia Tang Laura E Schultz-Rogers Noemi Vidal-Folch W Garrett Jenkinson Tanya L Schwab Krutika Gaonkar Margot A Cousin Asha Nair Shubham Basu Pritha Chanana Devin Oglesbee Eric W Klee

PLoS One 2019 2;14(10):e0223337. Epub 2019 Oct 2.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.

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March 2020

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

Authors:
Brandon L Pierce Lin Tong Samantha Dean Maria Argos Farzana Jasmine Muhammad Rakibuz-Zaman Golam Sarwar Md Tariqul Islam Hasan Shahriar Tariqul Islam Mahfuzar Rahman Md Yunus Vincent J Lynch Devin Oglesbee Joseph H Graziano Muhammad G Kibriya Mary V Gamble Habibul Ahsan

PLoS Genet 2019 May 20;15(5):e1008172. Epub 2019 May 20.

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May 2019

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

Authors:
Brandon L Pierce Lin Tong Samantha Dean Maria Argos Farzana Jasmine Muhammad Rakibuz-Zaman Golam Sarwar Md Tariqul Islam Hasan Shahriar Tariqul Islam Mahfuzar Rahman Md Yunus Vincent J Lynch Devin Oglesbee Joseph H Graziano Muhammad G Kibriya Mary V Gamble Habibul Ahsan

PLoS Genet 2019 03 20;15(3):e1007984. Epub 2019 Mar 20.

Department of Public Health Sciences, The University of Chicago, Chicago, IL, United States of America.

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March 2019

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

Authors:
Noemi Vidal-Folch Dimitar Gavrilov Kimiyo Raymond Piero Rinaldo Silvia Tortorelli Dietrich Matern Devin Oglesbee

Clin Chem 2018 12 23;64(12):1753-1761. Epub 2018 Oct 23.

Departments of Laboratory Medicine and Pathology.

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December 2018

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

Authors:
Ramanath Majumdar Andrew Yori Peggy W Rush Kimiyo Raymond Dimitar Gavrilov Silvia Tortorelli Dietrich Matern Piero Rinaldo Gerald L Feldman Devin Oglesbee

Mol Genet Genomic Med 2017 11 11;5(6):795-799. Epub 2017 Sep 11.

Mayo Clinic College of Medicine, Rochester, Minnesota.

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November 2017

Precision newborn screening for lysosomal disorders.

Authors:
Melissa M Minter Baerg Stephanie D Stoway Jeremy Hart Lea Mott Dawn S Peck Stephanie L Nett Jason S Eckerman Jean M Lacey Coleman T Turgeon Dimitar Gavrilov Devin Oglesbee Kimiyo Raymond Silvia Tortorelli Dietrich Matern Lars Mørkrid Piero Rinaldo

Genet Med 2018 08 9;20(8):847-854. Epub 2017 Nov 9.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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August 2018

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

Authors:
Silvia Tortorelli Jason S Eckerman Joseph J Orsini Colleen Stevens Jeremy Hart Patricia L Hall John J Alexander Dimitar Gavrilov Devin Oglesbee Kimiyo Raymond Dietrich Matern Piero Rinaldo

Genet Med 2018 08 2;20(8):840-846. Epub 2017 Nov 2.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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August 2018

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

Authors:
Erin Conboy Filippo Vairo Matthew Schultz Katherine Agre Ross Ridsdale David Deyle Devin Oglesbee Dimitar Gavrilov Eric W Klee Brendan Lanpher

JIMD Rep 2018 14;40:63-69. Epub 2017 Oct 14.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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October 2017

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

Authors:
Noemi Vidal-Folch Dragana Milosevic Ramanath Majumdar Dimitar Gavrilov Dietrich Matern Kimiyo Raymond Piero Rinaldo Silvia Tortorelli Roshini S Abraham Devin Oglesbee

J Mol Diagn 2017 09;19(5):755-765

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address:

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September 2017

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

Authors:
Devin Oglesbee Tina M Cowan Marzia Pasquali Timothy C Wood Karen E Weck Thomas Long Glenn E Palomaki

Genet Med 2018 Jan 29;20(1):83-90. Epub 2017 Jun 29.

Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.

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January 2018

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

Authors:
Dean E Morbeck Nikola A Baumann Devin Oglesbee

Fertil Steril 2017 Apr 24;107(4):1055-1060.e1. Epub 2017 Feb 24.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

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April 2017

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

Authors:
Mark A Frye Euijung Ryu Malik Nassan Gregory D Jenkins Ana C Andreazza Jared M Evans Susan L McElroy Devin Oglesbee W Edward Highsmith Joanna M Biernacka

J Psychiatr Res 2017 01 30;84:221-226. Epub 2016 Sep 30.

Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

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January 2017

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

Authors:
Silvia Tortorelli Coleman T Turgeon Dimitar K Gavrilov Devin Oglesbee Kimiyo M Raymond Piero Rinaldo Dietrich Matern

Clin Chem 2016 09 20;62(9):1248-54. Epub 2016 Jul 20.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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September 2016

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

Authors:
Ester Perales-Clemente Alexandra N Cook Jared M Evans Samantha Roellinger Frank Secreto Valentina Emmanuele Devin Oglesbee Vamsi K Mootha Michio Hirano Eric A Schon Andre Terzic Timothy J Nelson

EMBO J 2016 09 19;35(18):1979-90. Epub 2016 Jul 19.

Departments of Cardiovascular Diseases, Molecular Pharmacology and Experimental Therapeutics, Division of General Internal Medicine, Division of Pediatric Cardiology, and Transplant Center, Mayo Clinic Center for Regenerative Medicine, Rochester, MN, USA

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September 2016

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

Authors:
Patrick R Blackburn Raymond D Hickey Rebecca A Nace Nasra H Giama Daniel L Kraft Andrew J Bordner Roongruedee Chaiteerakij Jennifer B McCormick Maja Radulovic Rondell P Graham Michael S Torbenson Silvia Tortorelli C Ronald Scott Noralane M Lindor Dawn S Milliner Devin Oglesbee Wafa'a Al-Qabandi Markus Grompe Dimitar K Gavrilov Mounif El-Youssef Karl J Clark Paldeep S Atwal Lewis R Roberts Eric W Klee Stephen C Ekker

Hum Mutat 2016 10 8;37(10):1097-105. Epub 2016 Aug 8.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.

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October 2016

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

Authors:
Linnea M Baudhuin Susan A Lagerstedt Eric W Klee Numrah Fadra Devin Oglesbee Matthew J Ferber

J Mol Diagn 2015 Jul 8;17(4):456-61. Epub 2015 May 8.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address:

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July 2015

Newborn screening for lysosomal storage disorders.

Authors:
Dietrich Matern Dimitar Gavrilov Devin Oglesbee Kimiyo Raymond Piero Rinaldo Silvia Tortorelli

Semin Perinatol 2015 Apr 16;39(3):206-16. Epub 2015 Apr 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN.

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April 2015

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

Authors:
Derek Wong Silvia Tortorelli Lisa Bishop Elizabeth A Sellars Lisa A Schimmenti Natalie Gallant Carlos E Prada Robert J Hopkin Nancy D Leslie Susan A Berry David S Rosenblatt Amy L Fair Dietrich Matern Kimiyo Raymond Devin Oglesbee Piero Rinaldo Dimitar Gavrilov

Genet Med 2016 Feb 9;18(2):162-7. Epub 2015 Apr 9.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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February 2016

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

Authors:
Coleman T Turgeon Joseph J Orsini Karen A Sanders Mark J Magera Thomas J Langan Maria L Escolar Patricia Duffner Devin Oglesbee Dimitar Gavrilov Silvia Tortorelli Piero Rinaldo Kimiyo Raymond Dietrich Matern

J Inherit Metab Dis 2015 Sep 12;38(5):923-9. Epub 2015 Mar 12.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, 55905, USA.

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September 2015

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

Authors:
Coleman T Turgeon Ann B Moser Lars Mørkrid Mark J Magera Dimitar K Gavrilov Devin Oglesbee Kimiyo Raymond Piero Rinaldo Dietrich Matern Silvia Tortorelli

Mol Genet Metab 2015 Jan 27;114(1):46-50. Epub 2014 Nov 27.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Electronic address:

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January 2015

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.

Authors:
Eric C Deutsch Devin Oglesbee Nathaniel R Greeley David R Lynch

J Neurol Neurosurg Psychiatry 2014 Sep 24;85(9):994-1002. Epub 2014 Jan 24.

Department of Pharmacology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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September 2014

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

Authors:
Devin Oglesbee Charles Kroll Oleksandr Gakh Eric C Deutsch David R Lynch Ralitza Gavrilova Silvia Tortorelli Kimiyo Raymond Dimitar Gavrilov Piero Rinaldo Dietrich Matern Grazia Isaya

Clin Chem 2013 Oct 9;59(10):1461-9. Epub 2013 Jul 9.

Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, and.

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October 2013

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Authors:
Dietrich Matern Devin Oglesbee Silvia Tortorelli

Dev Disabil Res Rev 2013 ;17(3):247-53

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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March 2014

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

Authors:
Patricia Hall Virginia Michels Dimitar Gavrilov Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Silvia Tortorelli

Mol Genet Metab 2013 Sep-Oct;110(1-2):176-8. Epub 2013 Apr 10.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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March 2014

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

Authors:
Clifford D L Folmes Almudena Martinez-Fernandez Ester Perales-Clemente Xing Li Amber McDonald Devin Oglesbee Sybil C Hrstka Carmen Perez-Terzic Andre Terzic Timothy J Nelson

Stem Cells 2013 Jul;31(7):1298-308

Department of Medicine, Mayo Clinic, Rochester, MN, USA.

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July 2013

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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July 2012

Design and analytical validation of clinical DNA sequencing assays.

Authors:
Genevieve Pont-Kingdon Friederike Gedge Whitney Wooderchak-Donahue Iris Schrijver Karen E Weck Jeffrey A Kant Devin Oglesbee Pinar Bayrak-Toydemir Elaine Lyon

Arch Pathol Lab Med 2012 Jan;136(1):41-6

ARUP Laboratories, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA.

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January 2012

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

Authors:
M Ali Pervaiz Marc C Patterson Eduard A Struys Gajja S Salomons Cornelis Jakobs Devin Oglesbee Salman Kirmani

J Neurol 2011 Aug 8;258(8):1564-5. Epub 2011 Mar 8.

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August 2011

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

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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March 2011

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

Authors:
Olga Kochar Mark R Wick Sarah E Kerr Devin Oglesbee Helen P Cathro

Ultrastruct Pathol 2011 Apr;35(2):92-6

Department of Pathology and Laboratory Medicine, University of Virginia, Charlottesville, Virginia 22908, USA.

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April 2011

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

Authors:
Emily Helen Smith Dimitar K Gavrilov Devin Oglesbee William D Freeman Michael W Vavra Dietrich Matern Silvia Tortorelli

J Inherit Metab Dis 2010 Dec 4;33 Suppl 3:S349-53. Epub 2010 Sep 4.

Biochemical Genetics Laboratory - Hilton 3-10-02, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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December 2010

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

Authors:
Coleman T Turgeon Mark J Magera Carla D Cuthbert Perry R Loken Dimitar K Gavrilov Silvia Tortorelli Kimiyo M Raymond Devin Oglesbee Piero Rinaldo Dietrich Matern

Clin Chem 2010 Nov 31;56(11):1686-95. Epub 2010 Aug 31.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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November 2010

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

Authors:
Emily H Smith Cheryl Thomas David McHugh Dimitar Gavrilov Kimiyo Raymond Piero Rinaldo Silvia Tortorelli Dietrich Matern W Edward Highsmith Devin Oglesbee

Mol Genet Metab 2010 Jul 8;100(3):241-50. Epub 2010 Apr 8.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

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July 2010

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

Authors:
Silvia Tortorelli Coleman T Turgeon James S Lim Steve Baumgart Debra-Lynn Day-Salvatore Jose Abdenur Jonathan A Bernstein Fred Lorey Uta Lichter-Konecki Devin Oglesbee Kimiyo Raymond Dietrich Matern Lisa Schimmenti Piero Rinaldo Dimitar K Gavrilov

J Pediatr 2010 Aug 14;157(2):271-5. Epub 2010 Apr 14.

Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN 55905, USA.

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August 2010

Homogentisic acid interference in routine urine creatinine determination.

Authors:
Perry R Loken Mark J Magera Wendy Introne Silvia Tortorelli Dimitar Gavrilov Devin Oglesbee Piero Rinaldo Dietrich Matern Kimiyo Raymond

Mol Genet Metab 2010 May 21;100(1):103-4. Epub 2010 Jan 21.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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May 2010

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

Authors:
Coleman Turgeon Mark J Magera Pierre Allard Silvia Tortorelli Dimitar Gavrilov Devin Oglesbee Kimiyo Raymond Piero Rinaldo Dietrich Matern

Clin Chem 2008 Apr 15;54(4):657-64. Epub 2008 Feb 15.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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April 2008

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).

Authors:
Devin Oglesbee Karen A Sanders Jean M Lacey Mark J Magera Bruno Casetta Kevin A Strauss Silvia Tortorelli Piero Rinaldo Dietrich Matern

Clin Chem 2008 Mar 4;54(3):542-9. Epub 2008 Jan 4.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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March 2008

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

Authors:
Devin Oglesbee Miao He Nilanjana Majumder Jerry Vockley Ayesha Ahmad Brad Angle Barbara Burton Joel Charrow Regina Ensenauer Can H Ficicioglu Laura Davis Keppen Deborah Marsden Silvia Tortorelli Si Houn Hahn Dietrich Matern

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

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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February 2007

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

Authors:
Devin Oglesbee Debra Freedenberg Karen A Kramer Bambi D Anderson Si Houn Hahn

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

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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October 2006

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

Authors:
Karen A Kramer Devin Oglesbee Stacy J Hartman Joe Huey Bambi Anderson Mark J Magera Dietrich Matern Piero Rinaldo Brian H Robinson Jessie M Cameron Si Houn Hahn

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

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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November 2005

An overview of peroxisomal biogenesis disorders.

Authors:
Devin Oglesbee

Mol Genet Metab 2005 Apr;84(4):299-301

Clinical Biochemical Genetics, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic Graduate School of Medicine, Rochester, MN 55905, USA.

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April 2005

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

Authors:
George T Hanson Robert Aggeler Devin Oglesbee Mark Cannon Roderick A Capaldi Roger Y Tsien S James Remington

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

Department of Biology, Institute of Molecular Biology, University of Oregon, Eugene, OR 97403-1229, USA.

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March 2004

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

Authors:
James Murray Bing Zhang Steven W Taylor Devin Oglesbee Eoin Fahy Michael F Marusich Soumitra S Ghosh Roderick A Capaldi

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

Department of Molecular Biology, University of Oregon, Eugene 97403, USA.

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April 2003

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

Authors:
Roderick A Capaldi Robert Aggeler Robert Gilkerson George Hanson Michelle Knowles Andrew Marcus Daciana Margineantu Michael Marusich James Murray Devin Oglesbee S James Remington Rodrigue Rossignol

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

Institute of Molecular Biology, University of Oregon, Eugene, OR 97403-1229, USA.

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September 2002