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Author Details

Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
1988
152
44
PMIDPaper TitleJournal TitlePublished Year
36680545Validation of a targeted metabolomics panel for improved second-tier newborn screening.J Inherit Metab Dis2023
37549443Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.Mol Genet Metab2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
37031408Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
37090939A Phase 1 Study of Oral Vitamin D<sub>3</sub> in Boys and Young Men With X-Linked Adrenoleukodystrophy.Neurol Genet2023
36883293MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.Am J Med Genet A2023
36651831Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.J Inherit Metab Dis2023
36872458Outcomes after liver transplantation in MPV17 deficiency: A rebuttal.Pediatr Transplant2023
34668327Variable clinical severity in TANGO2 deficiency: Case series and literature review.Am J Med Genet A2022
35466509Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.Pediatr Transplant2022
35459555Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.Mol Genet Metab2022
33325055Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.J Inherit Metab Dis2021
33683010Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.Am J Med Genet A2021
34625341Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.Mol Genet Metab2021
34277355Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXÉ¿2 secondary to a <i>de novo</i> pathogenic variant in <i>PHKA2</i>.Mol Genet Metab Rep2021
34232272The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease.Transl Vis Sci Technol2021
33970744Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy.J Neurogenet2021
32190768Reducing False-Positive Results in Newborn Screening Using Machine Learning.Int J Neonatal Screen2020
31723249De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genet Med2020
33052980AMP-independent activator of AMPK for treatment of mitochondrial disorders.PLoS One2020
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
32216101Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.J Inherit Metab Dis2020
32173240Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Mol Genet Metab2020
30448007Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.Mol Genet Metab2019
31752325Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants.J Clin Med2019
32071842Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.JIMD Rep2019
30209273Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.Genet Med2019
31497479Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization.JIMD Rep2019
31377149Perspectives on urea cycle disorder management: Results of a clinician survey.Mol Genet Metab2019
31399326Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.Mol Genet Metab2019
30921410Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PLoS One2019
28689308Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency.JIMD Rep2018
30518688FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.JCI Insight2018
30311390Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.Hum Mutat2018
30613471Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.Transl Sci Rare Dis2018
29777588Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.Am J Med Genet A2018
29396029Prenatal treatment of ornithine transcarbamylase deficiency.Mol Genet Metab2018
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
29331327A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.J Pediatr2018
27836286Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature.J Pediatr2017
28467362Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.J Clin Med2017
29032949Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.Mol Genet Metab2017
29100089De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Am J Hum Genet2017
29215644Response to Newman et al.Genet Med2017
28878125Human hepatic organoids for the analysis of human genetic diseases.JCI Insight2017
28749475Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2017
28719387Pediatric mitochondrial diseases and the heart.Curr Opin Pediatr2017
28711408Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.Mol Genet Metab2017
27696117Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.J Inherit Metab Dis2017
27108799Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Am J Hum Genet2016
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Collaborators

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Co-authored papers 15
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Co-authored papers 10
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Co-authored papers 9
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Co-authored papers 8
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Co-authored papers 8
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Annette Feigenbaum
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McMaster University Medical Center
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Amel Karaa
Massachusetts General Hospital for Children
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David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 4
Hongyu Zhao
Yale University
Co-authored papers 4
Euan A Ashley
Stanford University
Co-authored papers 4
Yaping Yang
Baylor College of Medicine
Co-authored papers 3
Michael Snyder
Stanford University
Co-authored papers 3
Ronald W Davis
Stanford University
Co-authored papers 3
Paul G Fisher
Stanford University
Co-authored papers 3
Annika M Dries
Center for Inherited Cardiovascular Disease, Stanford University School of Medicine
Co-authored papers 3
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
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Liliana Fernandez
Stanford Center for Undiagnosed Diseases
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Abdel G Elkahloun
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John Christodoulou
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Release 1.2