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

Genetics in medicine, 2021-02, Vol.23 (2), p.249-258

2021

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SUMOylome Profiling Reveals a Diverse Array of Nuclear Targets Modified by the SUMO Ligase SIZ1 during Heat Stress

The Plant cell, 2018-05, Vol.30 (5), p.1077-1099

2018

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Proteomic analyses identify a diverse array of nuclear processes affected by small ubiquitin-like modifier conjugation in Arabidopsis

Proceedings of the National Academy of Sciences - PNAS, 2010-09, Vol.107 (38), p.16512-16517

2010

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Quantitative Proteomics Reveals Factors Regulating RNA Biology as Dynamic Targets of Stress-induced SUMOylation in Arabidopsis

Molecular & cellular proteomics, 2013-02, Vol.12 (2), p.449-463

2013

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Genetic Analysis of SUMOylation in Arabidopsis: Conjugation of SUMO1 and SUMO2 to Nuclear Proteins Is Essential

Plant physiology (Bethesda), 2007-09, Vol.145 (1), p.119-134

2007

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Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific reports, 2022-04, Vol.12 (1), p.6556-6556, Article 6556

2022

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CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

PLoS computational biology, 2021-01, Vol.17 (1), p.e1008550-e1008550

2021

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Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

PLoS computational biology, 2021-10, Vol.17 (10), p.e1009551-e1009551

2021

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Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies

Clinica chimica acta, 2017-03, Vol.466, p.105-111

2017

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GCN2 eIF2 kinase promotes prostate cancer by maintaining amino acid homeostasis

eLife, 2022-09, Vol.11

2022

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Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

The Journal of pediatrics, 2016-02, Vol.169, p.208-213.e2

2016

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Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism

Cell reports (Cambridge), 2023-10, Vol.42 (10), p.113241-113241, Article 113241

2023

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A clinically validated method to separate and quantify underivatized acylcarnitines and carnitine metabolic intermediates using mixed-mode chromatography with tandem mass spectrometry

Journal of Chromatography A, 2022-01, Vol.1663, p.462749, Article 462749

2022

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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.61-66

2016

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Mass spectrometric identification of SUMO substrates provides insights into heat stress-induced SUMOylation in plants

Plant signaling & behavior, 2011-01, Vol.6 (1), p.130-133

2011

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Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1029-1039

2015

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Acute Hyperammonemia, Lactic Acidosis, and Ketoacidosis in a Developmentally Normal Child

Clinical chemistry (Baltimore, Md.), 2021-11, Vol.67 (11), p.1572-1574

2021

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Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107680-107680, Article 107680

2023

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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

Genetics in medicine, 2019-09, Vol.21 (9), p.1977-1986

2019

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Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2019-10, Vol.1128, p.121786-121786, Article 121786

2019

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Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.83-90

2017

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Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)

Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107628-107628, Article 107628

2023

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Targeting GCN2 Regulation of Amino Acid Homeostasis in Prostate Cancer

The FASEB journal, 2022-05, Vol.36 (S1), p.n/a

2022

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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Genetics in medicine, 2018-10, Vol.20 (10), p.1274-1283

2018

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107668-107668, Article 107668

2023

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

SUMOylome Profiling Reveals a Diverse Array of Nuclear Targets Modified by the SUMO Ligase SIZ1 during Heat Stress

Proteomic analyses identify a diverse array of nuclear processes affected by small ubiquitin-like modifier conjugation in Arabidopsis

Quantitative Proteomics Reveals Factors Regulating RNA Biology as Dynamic Targets of Stress-induced SUMOylation in Arabidopsis

Genetic Analysis of SUMOylation in Arabidopsis: Conjugation of SUMO1 and SUMO2 to Nuclear Proteins Is Essential

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies

GCN2 eIF2 kinase promotes prostate cancer by maintaining amino acid homeostasis

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism

A clinically validated method to separate and quantify underivatized acylcarnitines and carnitine metabolic intermediates using mixed-mode chromatography with tandem mass spectrometry

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Mass spectrometric identification of SUMO substrates provides insights into heat stress-induced SUMOylation in plants

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Acute Hyperammonemia, Lactic Acidosis, and Ketoacidosis in a Developmentally Normal Child

Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders

Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)

Targeting GCN2 Regulation of Amino Acid Homeostasis in Prostate Cancer

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

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