Research Output per year
Fingerprint Dive into the research topics where Hilary J Vernon is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Barth Syndrome
Medicine & Life Sciences
Exome
Medicine & Life Sciences
Mitochondrial Diseases
Medicine & Life Sciences
Mutation
Medicine & Life Sciences
Propionic Acidemia
Medicine & Life Sciences
Inborn Errors Metabolism
Medicine & Life Sciences
Metabolomics
Medicine & Life Sciences
Cardiolipins
Medicine & Life Sciences
Network
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Research Output 1999 2019
Expansion of the clinical spectrum associated with AARS2-related disorders
Srivastava, S., Butala, A., Mahida, S., Richter, J., Mu, W., Poretti, A., Vernon, H. J., VanGerpen, J., Atwal, P. S., Middlebrooks, E. H., Zee, D. S. & Naidu, S., Jan 1 2019, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Leukoencephalopathies
Tremor
Ataxia
Psychiatry
Alanine-tRNA Ligase
Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome
Hornby, B., McClellan, R., Buckley, L., Carson, K., Gooding, T. & Vernon, H. J., Feb 11 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 37.Research output: Contribution to journal › Article
Open Access
Barth Syndrome
Reaction Time
Exercise
Knee
Pediatrics
Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution
Heng, J. S., Rattner, A., Stein-O’Brien, G. L., Winer, B. L., Jones, B. W., Vernon, H. J., Goff, L. & Nathans, J., Apr 30 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 18, p. 9103-9114 12 p.Research output: Contribution to journal › Article
Retina
Neuroglia
Brain
RNA Sequence Analysis
Transcriptome
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism
Anzmann, A. F., Pinto, S., Busa, V., Carlson, J., McRitchie, S., Sumner, S., Pandey, A. & Vernon, H. J., Dec 1 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1865, 12, 165538.Research output: Contribution to journal › Article
Propionic Acidemia
Metabolomics
Serine
Intramolecular Transferases
Sulfhydryl Compounds
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging
Pavuluri, K. D., Manoli, I., Pass, A., Li, Y., Vernon, H. J., Venditti, C. P. & McMahon, M. T., Aug 14 2019, In : Science Advances. 5, 8, eaaw8357.Research output: Contribution to journal › Article
Open Access
kidney diseases
mice
renal function
creatinine
kidneys