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 · 287 citations

Medicine, Molecular Genetics, Neurology +17

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 · 141 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

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 · 121 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +16

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Madeline Epping et al. · JCI Insight · 2018 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution

Jacob S. Heng, Amir Rattner, Genevieve Stein-O’Brien et al. · Proceedings of the National Academy of Sciences · 2019 · 77 citations · Full text

Life Sciences, Cell Biology, Neurobiology +17