Hilary J. Vernon

Clinical whole exome sequencing in child neurology practice

Siddharth Srivastava, Julie S. Cohen, Hilary J. Vernon et al. · Annals of Neurology · 2014 · 284 citations

A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome

Joel S. Benjamin, Genay Pilarowski, Giovanni A. Carosso et al. · Proceedings of the National Academy of Sciences · 2016 · 137 citations · Full text

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

William Thompson, Brittany Hornby, Ryan Manuel et al. · Genetics in Medicine · 2020 · 115 citations · Full text

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Madeline Epping et al. · JCI Insight · 2018 · 82 citations · Full text

Metabolic Disorder, Epigenetic Change, Genetics +21

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 73 citations