Hilary J Vernon

Assistant Professor

School of Medicine

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Research Output 1999 2018

21 Article
4 Chapter
1 Letter
1 Review article

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 journal › Article

Fuzzy filters

Sphingolipids

Serine

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 journal › Letter

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 proceeding › Chapter

Ataxia

Mitochondrial Diseases

Nervous System

Proprioception

Cerebellum

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 journal › Article

Genetic Association Studies

Natural History

Malocclusion

Cleft Palate

Registries

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 journal › Article

Neuroimaging

Amino Acids

Inborn Errors Metabolism

Central Nervous System Diseases

Metabolic Networks and Pathways