Ashlee R. Stiles

A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma

Jeffrey G. McDonald, Daniel Smith, Ashlee R. Stiles et al. · Journal of Lipid Research · 2012 · 232 citations · Full text

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Ashlee R. Stiles, Mariella Simon, Alexander E. Stover et al. · Molecular Genetics and Metabolism · 2016 · 119 citations

Genome Instability, Mtdna Depletion, Hepatology +11

Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels

Ashlee R. Stiles, Julia Kozlitina, Bonne M. Thompson et al. · Proceedings of the National Academy of Sciences · 2014 · 87 citations · Full text

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

Ashlee R. Stiles, Haoyue Zhang, Jian Dai et al. · Molecular Genetics and Metabolism · 2020 · 41 citations

Fabry Disease, Mendelian Disorder, Diagnosis +4

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Ashlee R. Stiles, Sacha Ferdinandusse, Arnaud Besse et al. · Molecular Genetics and Metabolism · 2015 · 37 citations · Full text

Newborn Screening, Genetic Disorder, Exome Sequencing +11