Publications by authors named "Hilary J Vernon"

27Publications

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.

Mol Genet Metab Rep 2020 Sep 2;24:100613. Epub 2020 Jun 2.

Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267727PMC
September 2020

Cardiolipin's Remodeling Rules Revealed: The Role of the Cellular Lipidome.

Cell Rep 2020 03;30(12):3949-3950

Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.celrep.2020.03.010DOI Listing
March 2020

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging.

Sci Adv 2019 08 14;5(8):eaaw8357. Epub 2019 Aug 14.

Division of MR Research, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1126/sciadv.aaw8357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693904PMC
August 2019

Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.

Biochim Biophys Acta Mol Basis Dis 2019 12 23;1865(12):165538. Epub 2019 Aug 23.

Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.165538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923996PMC
December 2019

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

Proc Natl Acad Sci U S A 2019 04 15;116(18):9103-9114. Epub 2019 Apr 15.

Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

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http://dx.doi.org/10.1073/pnas.1821122116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500147PMC
April 2019

Mitochondrial ataxias.

Handb Clin Neurol 2018 ;155:129-141

Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00009-3DOI Listing
October 2018

Neuroimaging Findings of Organic Acidemias and Aminoacidopathies.

Radiographics 2018 May-Jun;38(3):912-931

From the Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science (N.R., S.F.C., T.A.G.M.H., B.P.S.), and McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics (H.J.V.), The Johns Hopkins University School of Medicine, Charlotte R. Bloomberg Children's Center Bldg, Sheikh Zayed Tower, Room 4174, 1800 Orleans St, Baltimore, MD 21287-0842; Università degli Studi di Milano, Postgraduation School in Radiodiagnostics, Milan, Italy (S.F.C.); Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Md (H.J.V.); and Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland (E.B.).

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http://dx.doi.org/10.1148/rg.2018170042DOI Listing
October 2018

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

Annu Rev Pathol 2018 01 3;13:163-191. Epub 2017 Nov 3.

Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; email:

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http://dx.doi.org/10.1146/annurev-pathol-020117-043644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911915PMC
January 2018

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

Proc Natl Acad Sci U S A 2017 01 20;114(1):125-130. Epub 2016 Dec 20.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

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http://dx.doi.org/10.1073/pnas.1611431114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224378PMC
January 2017

New targets for monitoring and therapy in Barth syndrome.

Genet Med 2016 10 4;18(10):1001-10. Epub 2016 Feb 4.

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1038/gim.2015.204DOI Listing
October 2016

Inborn Errors of Metabolism: Advances in Diagnosis and Therapy.

Authors:
Hilary J Vernon

JAMA Pediatr 2015 Aug;169(8):778-82

McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University, Baltimore, Maryland2Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1001/jamapediatrics.2015.0754DOI Listing
August 2015

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.

Am J Med Genet A 2015 May 6;167A(5):1147-51. Epub 2015 Apr 6.

Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland; McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36993DOI Listing
May 2015

Clinical laboratory studies in Barth Syndrome.

Mol Genet Metab 2014 Jun 30;112(2):143-7. Epub 2014 Mar 30.

Division of Metabolism, Kennedy Krieger Institute, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.03.007DOI Listing
June 2014

6p25 microdeletion: white matter abnormalities in an adult patient.

Am J Med Genet A 2013 Jul 17;161A(7):1686-9. Epub 2013 May 17.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35937DOI Listing
July 2013