Oglesbee, Devin: search on Z-Library

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1

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia

Pureza, Vincent, Hasadsri, Linda, Highsmith, W. Edward, Oglesbee, Devin

Journal:

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

2

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 313 KB

english, 2010

3

Mucopolysaccharide quantitation in urine by LC-MS/MS

Lacey, Jean M., Gavrilov, Dimitar K., Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 120 KB

english, 2019

4

Multiplex assay for the tandem detection of ceramide trihexosides and sulfatides: Efficient first tier screening for Fabry, MLD, MSD, and Saposin B in urine

Nickander, Kim K., Lacey, Jean M., Gavrilov, Dimitar K., Matern, Dietrich, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 80 KB

english, 2019

5

The Mitochondrial Disease Biobank at Mayo Clinic: Three mighty years and counting

Hasadsri, Linda, Eisenberg, Leah R., Anderson, Claire, Hesemann, Jennifer, Schultz, Emily, Edwards, Kelly K., Bryant, Sandra C., Highsmith, W. Edward, Oglesbee, Devin

Journal:

Year:

2013

Language:

english

File:

PDF, 98 KB

english, 2013

6

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

Oglesbee, Devin, He, Miao, Majumder, Nilanjana, Vockley, Jerry, Ahmad, Ayesha, Angle, Brad, Burton, Barbara, Charrow, Joel, Ensenauer, Regina, Ficicioglu, Can H, Keppen, Laura Davis, Marsden, Deborah,

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 658 KB

english, 2007

7

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

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

Journal:

International Journal of Neonatal Screening

Year:

2020

File:

PDF, 1.27 MB

2020

8

Precision newborn screening for three lysosomal disorders in Kentucky

Matern, Dietrich, Tortorelli, Silvia, Oglesbee, Devin, Gavrilov, Dimitar, Raymond, Kimiyo, Hart, Jeremy, Mott, Lea, Rinaldo, Piero

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

9

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Matern, Dietrich, Oglesbee, Devin, Tortorelli, Silvia

Journal:

Development Diabilities Research Reviews

Year:

2013

Language:

english

File:

PDF, 229 KB

english, 2013

10

Unexpected Fabry Disease in a Renal Allograft Kidney: An Underrecognized Cause of Poor Allograft Function

Kochar, Olga, Wick, Mark R., Kerr, Sarah E., Oglesbee, Devin, Cathro, Helen P.

Journal:

Ultrastructural Pathology

Year:

2011

Language:

english

File:

PDF, 724 KB

english, 2011

11

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

12

549 Tyrosinemia Without Succinylacetone: Modeling a Novel Mutation in FAH in Family With Early Onset Cirrhosis and Hepatocellular Carcinoma

Blackburn, Patrick, Hickey, Raymond, Nace, Rebecca, Giama, Nasra H., Chaiteerakij, Roongruedee, Bordner, Andrew, Kraft, Daniel, Oglesbee, Devin, Al-Qabandi, Wafa'a, Grompe, Markus, Clark, Karl J., Kle

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 1.36 MB

english, 2015

13

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

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

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 257 KB

english, 2017

14

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)

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

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 211 KB

2020

15

Normal Muscle Respiratory Chain Enzymes Can Complicate Mitochondrial Disease Diagnosis

Devin Oglesbee, Debra Freedenberg, Karen A. Kramer, Bambi D. Anderson, Si Houn Hahn

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 158 KB

english, 2006

16

Mucopolysaccharides quantitation in serum by liquid chromatography-tandem mass spectrometry

Raymond, Kimiyo, Lacey, Jean M., Dimitar, Gavrilov, Matern, Dietrich, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

17

Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD)

Matern, Dietrich, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Hart, Jeremy, Mott, Lea, Kurtzberg, Joanne, Prasad, Vinod, Rinaldo, Piero

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

18

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

Miller, Marcus J., Cusmano-Ozog, Kristina, Oglesbee, Devin, Young, Sarah

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 394 KB

2020

19

Combined analysis of glucosylsphingosine, lyso-sphingomyelin, cholestane-3β,5α,6β-triol, and 7-ketocholesterol in plasma for Gaucher and Niemann-Pick disease types A, B, and C

Turgeon, Coleman, Matern, Dietrich, Rinaldo, Piero, Gavrilov, Dimitar, Oglesbee, Devin, Tortorelli, Silvia, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

20

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening

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

Journal:

The Journal of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

21

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

Palomaki, Glenn E., Bupp, Caleb, Gregg, Anthony R., Norton, Mary E., Oglesbee, Devin, Best, Robert. G.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 388 KB

english, 2019

22

Newborn screening for lysosomal and other disorders: a comparative effectiveness study

Matern, Dietrich, Oglesbee, Devin, Isaya, Grazia, Tortorelli, Silvia, Gavrilov, Dimitar, Hopwood, John, Lorey, Fred, Rinaldo, Piero, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

23

Newborn screening for lysosomal storage disorders

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

Journal:

Seminars in Perinatology

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

24

Enhanced interpretation of newborn screening results without analyte cutoff values

Marquardt, Gregg, Currier, Robert, McHugh, David M.S., Gavrilov, Dimitar, Magera, Mark J., Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H., Tortorelli, Silvia, Turg

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 767 KB

english, 2012

25

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

26

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

Palomaki, Glenn E., Bupp, Caleb, Gregg, Anthony R., Norton, Mary E., Oglesbee, Devin, Best, Robert. G.

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 388 KB

2019

27

Precision newborn screening for lysosomal disorders

Minter Baerg, Melissa M, Stoway, Stephanie D, Hart, Jeremy, Mott, Lea, Peck, Dawn S, Nett, Stephanie L, Eckerman, Jason S, Lacey, Jean M, Turgeon, Coleman T, Gavrilov, Dimitar, Oglesbee, Devin, Raymon

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 589 KB

english, 2017

28

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry

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, Die

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 817 KB

english, 2010

29

Design and Analytical Validation of Clinical DNA Sequencing Assays

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

Journal:

Archives of Pathology & Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

30

A replicating module as the unit of mitochondrial structure and functioning

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 R

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2002

Language:

english

File:

PDF, 202 KB

english, 2002

31

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

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

Journal:

The Journal of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 325 KB

english, 2015

32

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

Perales‐Clemente, Ester, Cook, Alexandra N, Evans, Jared M, Roellinger, Samantha, Secreto, Frank, Emmanuele, Valentina, Oglesbee, Devin, Mootha, Vamsi K, Hirano, Michio, Schon, Eric A, Terzic, Andre,

Journal:

The EMBO Journal

Year:

2016

Language:

english

File:

PDF, 1.61 MB

english, 2016

33

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 320 KB

english, 2015

34

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

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

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 612 KB

english, 2017

35

Development of Efficient and Effective Newborn Screening (NBS) Strategies for Lysosomal Storage Disorders (LSD)

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

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

36

Expanded analysis of Lyso-GB3 analogues and correlation with total Lyso-GB3 and Fabry status in 59 clinical patients

Netzel, Brian, Gavrilov, Dimitar, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia, Schultz, Matthew

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

37

Measurement of psychosine in dried blood spots: a potential improvement of newborn screening for Krabbe disease

Matern, Dietrich, Turgeon, Coleman C., Orsini, Joseph J., Sanders, Karen A., Hesemann, Jennifer L., Oglesbee, Devin, Gavrilov, Dimitar, Tortorelli, Silvia, Rinaldo, Piero, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

38

Disease-Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS

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

Journal:

Year:

2013

Language:

english

File:

PDF, 5.00 MB

english, 2013

39

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

Turgeon, Coleman T., Orsini, Joseph J., Sanders, Karen A., Magera, Mark J., Langan, Thomas J., Escolar, Maria L., Duffner, Patricia, Oglesbee, Devin, Gavrilov, Dimitar, Tortorelli, Silvia, Rinaldo, Pi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 289 KB

english, 2015

40

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

Sanders, Karen A., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo M., Tortorelli, Silvia, Hopwood, John J., Lorey, Fred, Majumdar, Ramanath, Kroll, Charles A., McDonald, Amber M., Lacey, Jean

Journal:

International Journal of Neonatal Screening

Year:

2020

File:

PDF, 880 KB

2020

41

Oligosacchariduria profiles by MALDI-TOF mass spectrometry andpost-analytical interpretation using multivariate pattern recognition software

Nickander, Kim K., Gavrilov, Dimitar K., Matern, Dietrich, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

42

Co-morbidity of Sanfilippo Syndrome type C andd-2-hydroxyglutaric aciduria

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

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

43

Pursuing objective performance metrics of Newborn Screening (NBS) tests for LSDs

Dietrich Matern, Joseph Orsini, Neil Maffit, Giselle Bentz Pino, Elyse Grycki, Silvia Tortorelli, Devin Oglesbee, Dimitar Gavrilov, Piero Rinaldo, Kimiyo Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

44

Composition of single-step media used for human embryo culture

Morbeck, Dean E., Baumann, Nikola A., Oglesbee, Devin

Journal:

Fertility and Sterility

Year:

2017

Language:

english

File:

PDF, 348 KB

english, 2017

45

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

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

Journal:

Clinical Chemistry

Year:

2018

Language:

english

File:

PDF, 761 KB

english, 2018

46

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

Blackburn, Patrick R., Carter, Jodi M., Oglesbee, Devin, Westendorf, Jennifer J., Neff, Brian A., Stichel, Damian, Tsen, David W., Gavrilova, Ralitza H., Wesseling, Pieter, von Deimling, Andreas, Caul

Journal:

Human Genetics and Genomics Advances

Year:

2020

File:

PDF, 509 KB

2020

47

Homogentisic acid interference in routine urine creatinine determination

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

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

48

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

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

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 493 KB

english, 2017

49

Laboratory monitoring of patients with hereditary tyrosinemia type I

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

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 583 KB

2020

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