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Methods in Molecular Biology (Clifton, N.J.)|August 5, 2011
In vitro models to study the blood brain barrierHilary Vernon, Katherine Clark, Joseph P Bressler
Therapeutic Advances in Rare Disease|May 14, 2023
Quality of life in Barth syndromeAlexander Y Kim, Hilary Vernon, Ryan Manuel, et al.
Plos One|February 4, 2015
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activationTatyana N Tarasenko, Odrick R Rosas, Larry N Singh, et al.
Molecular Genetics and Metabolism|August 15, 2025
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case ReportNeil Jacob, Daniel Schecter, Molly Marshall, et al.
BMJ Case Reports|November 12, 2025
Maternal cobalamin deficiency causing infantile seizures and developmental regressionNadav Weinstock, Jacqueline Wood, Emily DeBoy, et al.
Annals of Neurology|August 19, 2014
Clinical whole exome sequencing in child neurology practiceSiddharth Srivastava, Julie S Cohen, Hilary Vernon, et al.
Orphanet Journal of Rare Diseases|April 11, 2023
Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series dataJef Van den Eynde, Bhargava Chinni, Hilary Vernon, et al.
Protein Science : a Publication of the Protein Society|April 19, 2017
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2Ekaterine Kartvelishvili, Dmitry Tworowski, Hilary Vernon, et al.
American Journal of Medical Genetics. Part A|March 22, 2016
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyAngela Pipitone, Donna B Raval, Jessica Duis, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
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