引用次数
引用: 5,824
H-指数: 39
I10-指数 : 76
出版物: 252
ASSESSING AND TREATING SPINAL MUSCULAR ATROPHY
Oglesbee Devin , Folch Noemi Vidal
2020
Engineering targeted deletions in the mitochondrial genome
Stephen C Ekker , Devin Oglesbee , Jarryd M Campbell , Timothy J Nelson
bioRxiv 287342
3
2018
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
Clary B Clish , Devin Oglesbee , Owen S Skinner , Kristin Engelstad
Journal of Clinical Investigation 131 ( 2) 136055
1
2021
Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice
Devin Oglesbee , Tim Emmerzaal , Tamas Kozicz , Tamas Kozicz
Neurobiology of Stress 14 100300
3
2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses
Adam J. Guenzel , Pavel Pichurin , Devin Oglesbee , Dietrich Matern
JIMD Reports
2
2021
Comparison of psychosine analysis in dried blood spots and red blood cells in Krabbe disease
Michael Gelb , Adam Guenzel , Devin Oglesbee , Martin Bialer
Molecular Genetics and Metabolism 132
2021
How does plasma oxysterols analysis compare to fibroblast filipin staining for diagnosis of Niemann-Pick C disease?
Devin Oglesbee , Dietrich Matern , Silvia Tortorelli , Dimitar Gavrilov
Molecular Genetics and Metabolism 132
2021
Unbiased machine learning methods to predict the limitations of variant calling in homologous genomic regions using next-generation sequencing
Devin Oglesbee , Noemi Vidal-Folch , Nipun Mistry , Zhiyv (Neal) Niu
Molecular Genetics and Metabolism 132
2021
Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing
Devin Oglesbee , Dietrich Matern , Silvia Tortorelli , Dimitar Gavrilov
Molecular Genetics and Metabolism 132
2021
The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease
Devin Oglesbee , Dietrich Matern , Silvia Tortorelli , Dimitar Gavrilov
Molecular Genetics and Metabolism 132
2021
A New D-Galactose Treatment Monitoring Index for PGM1-CDG.
Ester Perales-Clemente , Devin Oglesbee , Dietrich Matern , Silvia Tortorelli
Journal of Inherited Metabolic Disease
2021
Precision newborn screening for lysosomal disorders.
Melissa M Minter Baerg , Stephanie D Stoway , Jeremy Hart , Lea Mott
Genetics in Medicine 20 ( 8) 847 -854
61
2018
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Silvia Tortorelli , Jason S Eckerman , Joseph J Orsini , Colleen Stevens
Genetics in Medicine 20 ( 8) 840 -846
24
2018
A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
Brandon L. Pierce , Lin Tong , Samantha Dean , Maria Argos
PLOS Genetics 15 ( 3)
7
2019
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
The Journal of Pediatrics 157 ( 2) 271 -275
27
2010
The Subunit Composition of the Human NADH Dehydrogenase Obtained by Rapid One-step Immunopurification
James Murray , Bing Zhang , Steven W. Taylor , Devin Oglesbee
Journal of Biological Chemistry 278 ( 16) 13619 -13622
88
2003
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry
Coleman T Turgeon , Mark J Magera , Carla D Cuthbert , Perry R Loken
Clinical Chemistry 56 ( 11) 1686 -1695
137
2010
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)
Devin Oglesbee , Karen A Sanders , Jean M Lacey , Mark J Magera
Clinical Chemistry 54 ( 3) 542 -549
87
2008
Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots
Coleman Turgeon , Mark J Magera , Pierre Allard , Silvia Tortorelli
Clinical Chemistry 54 ( 4) 657 -664
111
2008
High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood
Devin Oglesbee , Charles Kroll , Oleksandr Gakh , Eric C Deutsch
Clinical Chemistry 59 ( 10) 1461 -1469
10
2013