Publications
Metabolic decisions in development and disease-a Keystone Symposia report. Ann N Y Acad Sci. 2021 ;1506(1):55-73.
. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 ;125(1-2):118-126.
. Protein lipoylation: an evolutionarily conserved metabolic regulator of health and disease. Curr Opin Chem Biol. 2018 ;42:76-85.
. Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport. Am J Hum Genet. 2017 ;101(4):489-502.
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