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D-Index & Metrics

Biology and Biochemistry

D-Index
60
Citations
11327
World Ranking
12082
National Ranking
5174

Overview

Gregory M. Enns is affiliated with Stanford University in the United States and has contributed extensively to research in biochemistry, genetics, and molecular biology, with a significant emphasis on medicine. Their work spans various subfields including molecular biology, clinical biochemistry, genetics, physiology, and cardiology and cardiovascular medicine.

The scientist's research focuses primarily on metabolism and genetic disorders, mitochondrial function and pathology, genomics and rare diseases, diet and metabolism studies, peroxisome proliferator-activated receptors, ATP synthase and ATPases research, as well as cardiomyopathy and myosin studies.

Gregory M. Enns has a record of publications in several well-known journals. The most frequent venues for their work include:

  • Molecular Genetics and Metabolism
  • Journal of Inherited Metabolic Disease
  • Genetics in Medicine
  • American Journal of Medical Genetics Part A
  • Genetics in Medicine Open

Some of their recent papers include:

  • Mitochondrial diseases in North America, published in 2020 in Neurology Genetics
  • Reducing False-Positive Results in Newborn Screening Using Machine Learning, published in 2020 in International Journal of Neonatal Screening
  • Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy, published in 2023 in Neurology
  • Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency, published in 2020 in Journal of Inherited Metabolic Disease
  • Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), published in 2020 in Molecular Genetics and Metabolism

The scientist frequently collaborates with other researchers. Among their most frequent coauthors are Tina M. Cowan, Lindsay C. Burrage, Susan A. Berry, George A. Díaz, and Christina G. Tise.

Best Publications

  • Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Sumit Parikh;Amy Goldstein;Mary Kay Koenig;Fernando Scaglia

  • Clinical Interpretation and Implications of Whole-Genome Sequencing

    Frederick E. Dewey;Megan E. Grove;Cuiping Pan;Benjamin A. Goldstein

  • Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

    Gregory M. Enns;Susan A. Berry;Gerard T. Berry;William J. Rhead

  • Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Sumit Parikh;Amy Goldstein;Amel Karaa;Mary Kay Koenig

  • Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

    Natalia Gomez-Ospina;Carol J. Potter;Rui Xiao;Kandamurugu Manickam

  • A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

    Barbara K. Burton;Manisha Balwani;Francois Feillet;Ivo Baric

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

    Gregory M. Enns;Vandana Shashi;Matthew Bainbridge;Michael J. Gambello

  • Initial experience in the treatment of inherited mitochondrial disease with EPI-743

    Gregory M. Enns;Stephen L. Kinsman;Susan L. Perlman;Kenneth M. Spicer

  • Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence.

    G.M. Enns;R. Koch;V. Brumm;E. Blakely

  • Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

    Elizabeth Stevens;Keren J. Carss;Sebahattin Cirak;A. Reghan Foley

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  • Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

    D. P. Dimmock;Q. Zhang;C. Dionisi-Vici;R. Carrozzo

  • Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.

    Gregory M. Enns;Victoria A. Cox;Ruth B. Goldstein;David L. Gibbs

  • Natural history of propionic acidemia.

    Loren Pena;Jill Franks;Kimberly A. Chapman;Andrea Gropman

  • The contribution of mitochondria to common disorders.

    Gregory M Enns

  • Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease.

    Manisha Balwani;Catherine Breen;Gregory M. Enns;Patrick B. Deegan

  • A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood

    Tereza Moore;Anthony Le;Anna-Kaisa Niemi;Tony Kwan

  • Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?

    Gregory M. Enns;Elizabeth Roeder;Ruth T. Chan;Zohra Ali-Khan Catts

  • Treatment of mitochondrial disorders: antioxidants and beyond.

    Gregory M. Enns

Frequent Co-Authors

Jonathan A. Bernstein
Jonathan A. Bernstein University of Cincinnati Medical Center
Carlos O. Esquivel
Carlos O. Esquivel Stanford University
Mark A. Tarnopolsky
Mark A. Tarnopolsky McMaster University
Lee-Jun C. Wong
Lee-Jun C. Wong Baylor College of Medicine
William A. Gahl
William A. Gahl National Institutes of Health
Jerry Vockley
Jerry Vockley University of Pittsburgh
William J. Craigen
William J. Craigen Baylor College of Medicine
Hudson H. Freeze
Hudson H. Freeze Discovery Institute
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Michio Hirano
Michio Hirano Columbia University

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