Hilary J Vernon

Assistant Professor

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Research Output 1999 2018

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

Ferreira, C. R., Goorden, S. M. I., Soldatos, A., Byers, H. M., Ghauharali-van der Vlugt, J. M. M., Beers-Stet, F. S., Groden, C., van Karnebeek, C. D., Gahl, W. A., Vaz, F. M., Jiang, X. & Vernon, H. J., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Fuzzy filters
Peripheral Nervous System Diseases
Mitochondrial Diseases

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Vernon, H., Cohen, J., De Nittis, P., Fatemi, A., McClellan, R., Goldstein, A., Malerba, N., Guex, N., Reymond, A. & Merla, G., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1254-1256 3 p.

Research output: Contribution to journalLetter

Cardiac Arrhythmias

Mitochondrial ataxias

Vernon, H. J. & Bindoff, L. A., Jan 1 2018, Handbook of Clinical Neurology. Elsevier B.V., p. 129-141 13 p. (Handbook of Clinical Neurology; vol. 155)

Research output: Chapter in Book/Report/Conference proceedingChapter

Mitochondrial Diseases
Nervous System

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

Zarate, Y. A. , Smith-Hicks, C. L. , Greene, C. , Abbott, M. A. , Siu, V. M. , Calhoun, A. R. U. L. , Pandya, A. , Li, C. , Sellars, E. A. , Kaylor, J. , Bosanko, K. , Kalsner, L. , Basinger, A. , Slavotinek, A. M. , Perry, H. , Saenz, M. , Szybowska, M. , Wilson, L. C. , Kumar, A. , Brain, C. & 38 others Balasubramanian, M., Dubbs, H., Ortiz-Gonzalez, X. R., Zackai, E., Stein, Q., Powell, C. M., Schrier Vergano, S., Britt, A., Sun, A., Smith, W., Bebin, E. M., Picker, J., Kirby, A., Pinz, H., Bombei, H., Mahida, S., Cohen, J. S., Fatemi, A., Vernon, H. J., McClellan, R., Fleming, L. R., Knyszek, B., Steinraths, M., Velasco Gonzalez, C., Beck, A. E., Golden-Grant, K. L., Egense, A., Parikh, A., Raimondi, C., Angle, B., Allen, W., Schott, S., Algrabli, A., Robin, N. H., Ray, J. W., Everman, D. B., Gambello, M. J. & Chung, W. K., Apr 1 2018, In : American Journal of Medical Genetics, Part A. 176, 4, p. 925-935 11 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Natural History
Cleft Palate

Neuroimaging findings of organic acidemias and aminoacidopathies

Reddy, N., Calloni, S. F., Vernon, H. J., Boltshauser, E., Huisman, T. A. G. M. & Soares, B. P., May 1 2018, In : Radiographics. 38, 3, p. 912-931 20 p.

Research output: Contribution to journalArticle

Amino Acids
Inborn Errors Metabolism
Central Nervous System Diseases
Metabolic Networks and Pathways