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G. Enns · SciRah

Researcher profile · Semantic Scholar

G. Enns

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G. Enns — researcher profile on SciRah

h-index: 52
Works: 228
Citations: 9,646

Most-cited papers

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine293 citations Open access
Semantic Scholar
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
N. Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam +25 more
2016Nature Communications282 citations Open access
Semantic Scholar
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
B. Burton, M. Balwani, F. Feillet, I. Barić +27 more
2015New England Journal of Medicine224 citations Open access
Semantic Scholar
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
S. Küry, Geeske M. van Woerden, T. Besnard, M. Onori +102 more
2017American Journal of Human Genetics181 citations Open access
Semantic Scholar
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
K. Weiss, P. Terhal, L. Cohen, M. Bruccoleri +23 more
2016American Journal of Human Genetics131 citations Open access
Semantic Scholar
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
S. Petrovski, S. Küry, Candace T. Myers, K. Anyane-Yeboa +42 more
2016American Journal of Human Genetics114 citations Open access
Semantic Scholar
Clinical Features of Lysosomal Acid Lipase Deficiency
B. Burton, P. Deegan, G. Enns, O. Guardamagna +14 more
2015Journal of Pediatric Gastroenterology and Nutrition - JPGN105 citations Open access
Semantic Scholar
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.
A. Niemi, Irene K. Kim, Casey E. Krueger, T. Cowan +6 more
2015Jornal de Pediatria102 citations
Semantic Scholar
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
S. A. Jones, V. Valayannopoulos, E. Schneider, S. Eckert +18 more
2015Genetics in Medicine94 citations Open access
Semantic Scholar
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
M. Oláhová, W. Yoon, K. Thompson, S. Jangam +209 more
2018American Journal of Human Genetics91 citations Open access
Semantic Scholar
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy
Amanda H. Kahn-Kirby, Akiko Amagata, Celine I. Maeder, J. J. Mei +25 more
2019PLoS ONE90 citations Open access
Semantic Scholar
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.
Amitha L. Ananth, A. Robichaux-Viehoever, Young‐Min Kim, Andrea Hanson‐Kahn +7 more
2016Pediatric Neurology86 citations
Semantic Scholar
Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy
G. Enns, T. Cowan
2017Journal of Clinical Medicine76 citations Open access
Semantic Scholar
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
I. Manoli, J. Sysol, M. Epping, Li-Na Li +27 more
2018JCI Insight66 citations Open access
Semantic Scholar
Reducing False-Positive Results in Newborn Screening Using Machine Learning
G. Peng, Yishuo Tang, T. Cowan, G. Enns +2 more
2020International Journal of Neonatal Screening62 citations Open access
Semantic Scholar
Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Diane B. Zastrow, Heather Baudet, W. Shen, Amanda Thomas +19 more
2018Human Mutation59 citations Open access
Semantic Scholar
Impact of diagnosis and therapy on cognitive function in urea cycle disorders
R. Posset, A. Gropman, S. Nagamani, Lindsay C. Burrage +40 more
2019Annals of Neurology58 citations Open access
Semantic Scholar
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
N. Longo, G. Arnold, G. Pridjian, G. Enns +3 more
2015Molecular Genetics and Metabolism55 citations Open access
Semantic Scholar
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy
A. Karaa, E. Bertini, V. Carelli, Bruce H. Cohen +28 more
2023Neurology50 citations Open access
Semantic Scholar
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Kathryn M. Camp, D. Krotoski, Melissa A. Parisi, K. Gwinn +25 more
2016Molecular Genetics and Metabolism49 citations Open access
Semantic Scholar
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Premature Newborns
K. Sylvester, Zachary J. Kastenberg, R. L. Moss, G. Enns +7 more
2016Jornal de Pediatria44 citations Open access
Semantic Scholar
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
G. Peng, P. Shen, Neeru Gandotra, Anthony T. Le +7 more
2018Genetics in Medicine42 citations Open access
Semantic Scholar
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
G. Mirzaa, Jessica X. Chong, A. Piton, B. Popp +72 more
2019Genetics in Medicine41 citations Open access
Semantic Scholar
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Jennifer Schymick, P. Leahy, T. Cowan, M. Ruzhnikov +8 more
2021American Journal of Medical Genetics. Part A36 citations
Semantic Scholar
Mitochondrial diseases in North America
E. Barca, Yuelin Long, V. Cooley, R. Schoenaker +31 more
2020Neurology: Genetics36 citations Open access
Semantic Scholar
Successful Liver Transplantation in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
K. Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, W. Berquist +19 more
2020Molecular Genetics and Metabolism35 citations Open access
Semantic Scholar
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
M. Oláhová, K. Thompson, S. Hardy, I. Barbosa +14 more
2016Journal of Inherited Metabolic Disease34 citations Open access
Semantic Scholar
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
R. Rius, N. V. Van Bergen, A. Compton, L. Riley +13 more
2019Journal of Clinical Medicine32 citations Open access
Semantic Scholar
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.
Claudia Soler-Alfonso, G. Enns, M. Koenig, H. Saavedra +2 more
2015Pediatric Neurology32 citations
Semantic Scholar
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
G. Peng, Yishuo Tang, Neeru Gandotra, G. Enns +3 more
2020Journal of Inherited Metabolic Disease31 citations Open access
Semantic Scholar
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Kimberly Splinter, A. Niemi, Rachel Cox, Julia Platt +4 more
2016Journal of Genetic Counseling31 citations Open access
Semantic Scholar
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
N. Gallant, K. Leydiker, Y. Wilnai, C. Lee +10 more
2017Molecular Genetics and Metabolism29 citations
Semantic Scholar
Clinical Trials in Mitochondrial Disease: An Update on EPI-743 and RP103
G. Enns, B. Cohen
201725 citations Open access
Semantic Scholar
Pediatric mitochondrial diseases and the heart
G. Enns
2017Current opinion in pediatrics21 citations
Semantic Scholar
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization
M. Huffaker, Anne Y. Liu, G. Enns, Suresh Vijay +2 more
2019JIMD Reports20 citations Open access
Semantic Scholar
Current 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
M. Zaghlula, D. Glaze, G. Enns, L. Potocki +2 more
2018American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
Shaul Lerner, R. Eilam, L. Adler, J. Baruteau +43 more
2021Human Genetics19 citations Open access
Semantic Scholar
Perspectives on urea cycle disorder management: Results of a clinician survey.
G. Enns, Marty H. Porter, M. Francis-Sedlak, A. Burdett +1 more
2019Molecular Genetics and Metabolism19 citations Open access
Semantic Scholar
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency.
S. Mahapatra, Amitha L. Ananth, Nancy Baugh, M. Damian +1 more
2018JIMD Reports18 citations Open access
Semantic Scholar
Prenatal treatment of ornithine transcarbamylase deficiency.
Y. Wilnai, Y. Blumenfeld, Kristina Cusmano, S. Hintz +18 more
2018Molecular Genetics and Metabolism18 citations
Semantic Scholar
Validation of a targeted metabolomics panel for improved second-tier newborn screening
Justin Mak, G. Peng, Anthony T. Le, Neeru Gandotra +3 more
2023Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
G. Enns, Z. Ammous, Ryan W. Himes, J. Nogueira +3 more
2021Molecular Genetics and Metabolism17 citations Open access
Semantic Scholar
The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease
Marco H. Ji, Alexander Kreymerman, Kinsley C. Belle, Benjamin K. Ghiam +5 more
2021Translational Vision Science & Technology16 citations Open access
Semantic Scholar
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
H. Alharbi, E. Daniel, J. Thies, Irene J. Chang +20 more
2023Journal of Inherited Metabolic Disease15 citations Open access
Semantic Scholar
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
J. Newman, Aaron C. Shaver, Jonathan H. Sheehan, S. Mallal +208 more
2019Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
AMP-independent activator of AMPK for treatment of mitochondrial disorders
T. Moore, R. Yanes, M. Calton, D. Vollrath +2 more
2020PLoS ONE14 citations Open access
Semantic Scholar
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
Chloe M. Reuter, Elise Brimble, Colette DeFilippo, Annika M. Dries +5 more
2018Jornal de Pediatria14 citations Open access
Semantic Scholar
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Lori-Anne P Schillaci, C. Greene, Erin T. Strovel, Jessica Rispoli-Joines +10 more
2016Molecular Genetics and Metabolism14 citations
Semantic Scholar
Living donor liver transplantation for inborn errors of metabolism – An underutilized resource in the United States
T. Pham, G. Enns, C. Esquivel
2016Pediatric Transplantation14 citations
Semantic Scholar
MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype
Christina G. Tise, Courtney P Verscaj, B. Mendelsohn, Jeremy D. Woods +6 more
2023American Journal of Medical Genetics. Part A13 citations
Semantic Scholar

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