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Hilary J Vernon

Associate Professor

19992019
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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

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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