Hilary J Vernon

Associate Professor

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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
Intellectual Disability Medicine & Life Sciences

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Research Output 1999 2020

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Baylor-Hopkins Center for Mendelian Genomics, Jan 1 2020, In : American Journal of Medical Genetics, Part A. 182, 1, p. 38-52 15 p.

Research output: Contribution to journalArticle

Autistic Disorder
Intellectual Disability
Eye Abnormalities

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 journalArticle

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 journalArticle

Open Access
Barth Syndrome
Reaction Time

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 journalArticle

RNA Sequence Analysis

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 journalArticle

Propionic Acidemia
Intramolecular Transferases
Sulfhydryl Compounds