Hilary J. Vernon, Ph.D.
Affiliations: | 2004 | Rutgers University, New Brunswick, New Brunswick, NJ, United States |
Area:
Molecular Biology, PathologyGoogle:
"Hilary Vernon"Parents
Sign in to add mentor| Jay Tischfield | grad student | 2004 | Rutgers, New Brunswick | |
| (Adenine phosphoribosyltransferase deficiency: A model to study the functions of osteopontin in kidney stone disease.) | ||||
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Publications
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| Vissers LELM, Kalvakuri S, de Boer E, et al. (2020) De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. American Journal of Human Genetics |
| A Almuqbil M, Vernon HJ, Ferguson M, et al. (2020) -associated mitochondrial disease: A case report of a patient with prolonged survival and literature review. Molecular Genetics and Metabolism Reports. 24: 100613 |
| Assia Batzir N, Posey JE, Song X, et al. (2019) Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). American Journal of Medical Genetics. Part A |
| Pavuluri K, Manoli I, Pass A, et al. (2019) Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. Science Advances. 5: eaaw8357 |
| Anzmann AF, Pinto S, Busa V, et al. (2019) Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165538 |
| Srivastava S, Butala A, Mahida S, et al. (2019) Expansion of the clinical spectrum associated with AARS2-related disorders. American Journal of Medical Genetics. Part A |
| Shukla A, Girisha KM, Somashekar PH, et al. (2019) Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. American Journal of Medical Genetics. Part A |
| Hornby B, McClellan R, Buckley L, et al. (2019) Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome. Orphanet Journal of Rare Diseases. 14: 37 |
| Manoli I, Sysol JR, Epping MW, et al. (2018) FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. Jci Insight. 3 |
| Ferreira CR, Goorden SMI, Soldatos A, et al. (2018) Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability. Molecular Genetics and Metabolism |