Hilary J Vernon (Hilary Vernon)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 16

Top Venues

Journal of inherited metabolic disease

American journal of medical genetics. Part A

Disease models & mechanisms

Genetics in medicine : official journal of the American College of Medical Genetics

Johns Hopkins University School of Medicine

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Johns Hopkins University School of Medicine

United States

Associate Professor :: McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University School of Medicine

United States

Assistant Professor :: McKusick Nathans Institute of Genetic Medicine

Publications

Olivia Sniezek Carney, Kodi William Harris, Yvonne Wohlfarter, Kyuna Lee, Grant Butschek, Arianna Anzmann, Steven Michael Claypool, Anne Hamacher-Brady, Markus Andreas Keller, Hilary J Vernon
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome. bioRxiv : the preprint server for biology (2024)
Hani N Sabbah, Carolyn Taylor, Hilary J Vernon
Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide. Future cardiology (2023)
Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, Carolina Alvarez, Frederic Bilan, Gwenaël Le Guyader, Ebba Alkhunaizi, Hilary J Vernon, Sergio R Padilla-Lopez, Michael C Kruer
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder. Disease models & mechanisms (2023)
Shira G Ziegler, Jiyoung Kim, Jeffrey T Ehmsen, Hilary J Vernon
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances. Disease models & mechanisms 16 (11) (2023)
Andrew R Carey, Neil R Miller, Hong Cui, Katrina Allis, Amanda Balog, Renkui Bai, Hilary J Vernon
Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society (2023)
Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr, Hilary J Vernon
Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome. Orphanet journal of rare diseases 17 (1) (2022)
Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine. Case reports in genetics 2022 (2022)
Hilary J Vernon, Irini Manoli
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet. American journal of medical genetics. Part A 185 (11) (2021)
Carolyn Taylor, Emily S Rao, Germaine Pierre, Estathia Chronopoulou, Brittany Hornby, Andrea Heyman, Hilary J Vernon
Clinical presentation and natural history of Barth Syndrome: An overview. Journal of inherited metabolic disease (2021)
Reid Thompson, John Jefferies, Suya Wang, William T Pu, Clifford Takemoto, Brittany Hornby, Andrea Heyman, Michael T Chin, Hilary J Vernon
Current and future treatment approaches for Barth syndrome. Journal of inherited metabolic disease (2021)
Frederic M Vaz, Henk van Lenthe, Martin A T Vervaart, Femke S Stet, Johanne H Klinkspoor, Hilary J Vernon, Susan M I Goorden, Riekelt H L Houtkooper, Willem Kulik, Ronald J A Wanders
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio. Journal of inherited metabolic disease (2021)
W Reid Thompson, Brittany Hornby, Ryan Manuel, Elena Bradley, Janice Laux, Jim Carr, Hilary J Vernon
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. Genetics in medicine : official journal of the American College of Medical Genetics 23 (3) (2020)
Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, Zeynep Coban Akdemir, Jill A Rosenfeld, Chester W Brown, Emily Chen, Shannon G Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas-Rothschild, Richard Scott, Hilary J Vernon, Neda Zadeh, null null, James R Lupski, V Reid Sutton
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). American journal of medical genetics. Part A 182 (1) (2019)
KowsalyaDevi Pavuluri, Irini Manoli, Alexandra Pass, Yuguo Li, Hilary J Vernon, Charles P Venditti, Michael T McMahon
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. Science advances 5 (8) (2019)
Anju Shukla, Katta Mohan Girisha, Puneeth H Somashekar, Sheela Nampoothiri, Rebecca McClellan, Hilary J Vernon
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. American journal of medical genetics. Part A 179 (5) (2019)
W Reid Thompson, Brittany DeCroes, Rebecca McClellan, Jessica Rubens, Frédéric M Vaz, Kara Kristaponis, Dimitrios Avramopoulos, Hilary J Vernon
New targets for monitoring and therapy in Barth syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 18 (10) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Hilary J Vernon (Hilary Vernon)