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Molecular Genetics and Metabolism Reports|November 25, 2014
Lysinuric Protein Intolerance Presenting with Multiple FracturesJennifer E Posey, Lindsay C Burrage, Marcus J Miller, et al.Journal of Inherited Metabolic Disease|April 16, 2015
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolismMarcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disordersLindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup, et al.Molecular Genetics and Metabolism|August 7, 2023
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretationMay Flowers, Alexa Dickson, Marcus J Miller, et al.Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.Cell Reports|October 11, 2023
Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolismMakayla S Lancaster, Byungwook Kim, Emma H Doud, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkersMichael F Wangler, Leroy Hubert, Taraka R Donti, et al.Elife|September 15, 2022
GCN2 eIF2 kinase promotes prostate cancer by maintaining amino acid homeostasisRicardo A Cordova, Jagannath Misra, Parth H Amin, et al.American Journal of Medical Genetics. Part A|December 20, 2022
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyShuk Ching Chong, Ye Cao, Eva L W Fung, et al.Pageof 4