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Oglesbee, Devin
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: OCO-QIN, 2022, p.8451-8451
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Oglesbee, Devin
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: OGA-QYA, 2021, p.8423-8423
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Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Miller, Marcus J. ; Cusmano-Ozog, Kristina ; Oglesbee, Devin ; Young, Sarah
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.249-258
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Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
Author / Creator:Vidal-Folch, Noemi ; Gavrilov, Dimitar ; Raymond, Kimiyo ; Rinaldo, Piero ; Tortorelli, Silvia ; Matern, Dietrich ; Oglesbee, Devin
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2018-12, Vol.64 (12), p.1753-1761
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Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
Author / Creator:McGregor, Tracy L ; Hunt, Karen A ; Yee, Elaine ; Mason, Dan ; Nioi, Paul ; Ticau, Simina ; Pelosi, Marissa ; Loken, Perry R ; Finer, Sarah ; Lawlor, Deborah A ; Fauman, Eric B ; Huang, Qin Qin ; Griffiths, Christopher J ; MacArthur, Daniel G ; Trembath, Richard C ; Oglesbee, Devin ; Lieske, John C ; Erbe, David V ; Wright, John ; van Heel, David A
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2020-03, Vol.9
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Precision newborn screening for lysosomal disorders
Author / Creator: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 ; Raymond, Kimiyo ; Tortorelli, Silvia ; Matern, Dietrich ; Mørkrid, Lars ; Rinaldo, Piero
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-08, Vol.20 (8), p.847-854
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488 From discovery to the clinical laboratory: a methodological appraisal of untargeted metabolomics platforms to characterize inborn errors of metabolism
Author / Creator:Wurth, Rachel ; Turgeon, Coleman ; Stander, Zinandré ; Oglesbee, Devin
Publisher:Cambridge: Cambridge University Press
Journal title:Journal of clinical and translational science, 2024-04, Vol.8 (s1), p.144-144
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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
Author / Creator:Furuta, Yutaka ; Tinker, Rory J. ; Hamid, Rizwan ; Cogan, Joy D. ; Ezell, Kimberly M. ; Oglesbee, Devin ; DeBerardinis, Ralph J. ; Phillips, John A.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.427-11, Article 427
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Author / Creator:Guenzel, Adam J. ; Turgeon, Coleman T. ; Nickander, Kim K. ; White, Amy L. ; Peck, Dawn S. ; Pino, Gisele B. ; Studinski, April L. ; Prasad, Vinod K. ; Kurtzberg, Joanne ; Escolar, Maria L. ; Lasio, Maria Laura Duque ; Pellegrino, Joan E. ; Sakonju, Ai ; Hickey, Rachel E. ; Shallow, Natalie M. ; Ream, Margie A. ; Orsini, Joseph J. ; Gelb, Michael H. ; Raymond, Kimiyo ; Gavrilov, Dimitar K. ; Oglesbee, Devin ; Rinaldo, Piero ; Tortorelli, Silvia ; Matern, Dietrich
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1108-1118
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Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Palomaki, Glenn E. ; Bupp, Caleb ; Gregg, Anthony R. ; Norton, Mary E. ; Oglesbee, Devin ; Best, Robert G.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2020-03, Vol.22 (3), p.462-474
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Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality
Author / Creator:Sabharwal, Ankit ; Wishman, Mark D ; Cervera, Roberto Lopez ; Serres, MaKayla R ; Anderson, Jennifer L ; Holmberg, Shannon R ; Kar, Bibekananda ; Treichel, Anthony J ; Ichino, Noriko ; Liu, Weibin ; Yang, Jingchun ; Ding, Yonghe ; Deng, Yun ; Lacey, Jean M ; Laxen, William J ; Loken, Perry R ; Oglesbee, Devin ; Farber, Steven A ; Clark, Karl J ; Xu, Xiaolei ; Ekker, Stephen C
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2022-11, Vol.11
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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Author / Creator:Oliver, Gavin R. ; Tang, Xiaojia ; Schultz-Rogers, Laura E. ; Vidal-Folch, Noemi ; Jenkinson, W. Garrett ; Schwab, Tanya L. ; Gaonkar, Krutika ; Cousin, Margot A. ; Nair, Asha ; Basu, Shubham ; Chanana, Pritha ; Oglesbee, Devin ; Klee, Eric W.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-10, Vol.14 (10), p.e0223337-e0223337
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Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
Author / Creator:Tortorelli, Silvia ; Turgeon, Coleman T ; Gavrilov, Dimitar K ; Oglesbee, Devin ; Raymond, Kimiyo M ; Rinaldo, Piero ; Matern, Dietrich
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2016-09, Vol.62 (9), p.1248-1254
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A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Author / Creator:Pierce, Brandon L. ; Tong, Lin ; Dean, Samantha ; Argos, Maria ; Jasmine, Farzana ; Rakibuz-Zaman, Muhammad ; Sarwar, Golam ; Islam, Md. Tariqul ; Shahriar, Hasan ; Islam, Tariqul ; Rahman, Mahfuzar ; Yunus, Md ; Lynch, Vincent J. ; Oglesbee, Devin ; Graziano, Joseph H. ; Kibriya, Muhammad G. ; Gamble, Mary V. ; Ahsan, Habibul
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-03, Vol.15 (3), p.e1007984
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Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry
Author / Creator:Turgeon, Coleman T ; Magera, Mark J ; Cuthbert, Carla D ; Loken, Perry R ; Gavrilov, Dimitar K ; Tortorelli, Silvia ; Raymond, Kimiyo M ; Oglesbee, Devin ; Rinaldo, Piero ; Matern, Dietrich
Publisher:Washington, DC: American Association for Clinical Chemistry
Journal title:Clinical chemistry (Baltimore, Md.), 2010-11, Vol.56 (11), p.1686-1695
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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)
Author / Creator: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.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.983-985
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367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory
Author / Creator:Wurth, Rachel ; Turgeon, Coleman ; ZinandrÃ©Stander ; Gavrilov, Dimitar ; Hall, Patricia ; Matern, Dietrich ; Schultz, Matthew ; Tortorelli, Silvia ; Oglesbee, Devin
Publisher:Cambridge: Cambridge University Press
Journal title:Journal of clinical and translational science, 2023-04, Vol.7 (s1), p.109-109
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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)
Author / Creator:Oglesbee, Devin ; Sanders, Karen A ; Lacey, Jean M ; Magera, Mark J ; Casetta, Bruno ; Strauss, Kevin A ; Tortorelli, Silvia ; Rinaldo, Piero ; Matern, Dietrich
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2008-03, Vol.54 (3), p.542-549
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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Author / Creator:Peck, Dawn S. ; Lacey, Jean M. ; White, Amy L. ; Pino, Gisele ; Studinski, April L. ; Fisher, Rachel ; Ahmad, Ayesha ; Spencer, Linda ; Viall, Sarah ; Shallow, Natalie ; Siemon, Amy ; Hamm, J. Austin ; Murray, Brianna K. ; Jones, Kelly L. ; Gavrilov, Dimitar ; Oglesbee, Devin ; Raymond, Kimiyo ; Matern, Dietrich ; Rinaldo, Piero ; Tortorelli, Silvia
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2020-03, Vol.6 (1), p.10-10
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Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Author / Creator:Pierce, Brandon L. ; Tong, Lin ; Dean, Samantha ; Argos, Maria ; Jasmine, Farzana ; Rakibuz-Zaman, Muhammad ; Sarwar, Golam ; Islam, Md. Tariqul ; Shahriar, Hasan ; Islam, Tariqul ; Rahman, Mahfuzar ; Yunus, Md ; Lynch, Vincent J. ; Oglesbee, Devin ; Graziano, Joseph H. ; Kibriya, Muhammad G. ; Gamble, Mary V. ; Ahsan, Habibul
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-05, Vol.15 (5), p.e1008172-e1008172
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Oglesbee, Devin

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Oglesbee, Devin

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

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

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

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Precision newborn screening for lysosomal disorders

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488 From discovery to the clinical laboratory: a methodological appraisal of untargeted metabolomics platforms to characterize inborn errors of metabolism

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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

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

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

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Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

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

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

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

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Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

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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)

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367 Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory

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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)

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

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

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