Research Output 1999 2017

2017

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

Kartvelishvili, E., Tworowski, D., Vernon, H., Moor, N., Wang, J., Wong, L. J., Chrzanowska-Lightowlers, Z. & Safro, M. 2017 In : Protein Science.

Research output: Contribution to journalArticle

Mutation
Kinetics
Supravalvular Aortic Stenosis
Aminoacylation
Genes
2016

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K. , Zhai, S. , Elsbecker, S. A. , Arnold, G. L. , Burton, B. K. , Vockley, J. , Cameron, C. A. , Hiner, S. J. , Edick, M. J. , Berry, S. A. , Thomas, J. , Dodge, M. , Singh, R. , Lakshman, S. , Coakley, K. , Stembridge, A. , Russi, A. S. , Phillips, E. , Burton, B. , Edano, C. & 62 others Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S. Sep 1 2016 In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Newborn Infant
Metabolism
Jejunoileal Bypass

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function

Sandlers, Y., Mercier, K., Pathmasiri, W., Carlson, J., McRitchie, S., Sumner, S. & Vernon, H. J. 2016 In : PloS one. 11, 3, p. e0151802

Research output: Contribution to journalArticle

metabolites
Barth Syndrome
Cardiolipins
Metabolomics
MSH Release-Inhibiting Hormone

New targets for monitoring and therapy in Barth syndrome

Thompson, W. R., Decroes, B., Mcclellan, R., Rubens, J., Vaz, F. M., Kristaponis, K., Avramopoulos, D. & Vernon, H. J. Oct 1 2016 In : Genetics in Medicine. 18, 10, p. 1001-1010 10 p.

Research output: Contribution to journalArticle

Barth Syndrome
Cardiolipins
Genotype
Exercise
Phenotype

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, A., Raval, D. B., Duis, J., Vernon, H., Martin, R., Hamosh, A., Valle, D. & Gunay-Aygun, M. 2016 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Lyases
Coenzyme A
Pregnancy
Carnitine
Acidosis
2015

A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation

Tarasenko, T. N., Rosas, O. R., Singh, L. N., Kristaponis, K., Vernon, H. & McGuire, P. J. Feb 3 2015 In : PLoS One. 10, 2, e0116594

Research output: Contribution to journalArticle

ornithine carbamoyltransferase
animal models
mutation
amino acids
Ornithine Carbamoyltransferase Deficiency Disease

Inborn errors of metabolism: Advances in diagnosis and therapy

Vernon, H. J. Aug 1 2015 In : JAMA Pediatrics. 169, 8, p. 778-782 5 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Inborn Urea Cycle Disorder
Exome
Mitochondrial Diseases
Metabolomics

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

Vernon, H. J., Mcclellan, R., Batista, D. A. & Naidu, S. May 1 2015 In : American Journal of Medical Genetics, Part A. 167, 5, p. 1147-1151 5 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Siblings
Mutation
Exons
Phenylalanine-tRNA Ligase

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

De Santo, C. , D'Aco, K. , Araujo, G. C. , Shannon, N. , Study, D. D. D. , Vernon, H. , Rahrig, A. , Monaghan, K. G. , Niu, Z. , Vitazka, P. , Dodd, J. , Tang, S. , Manwaring, L. , Martir-Negron, A. , Schnur, R. E. , Juusola, J. , Schroeder, A. , Pan, V. , Helbig, K. L. , Friedman, B. & 1 others Shinawi, M. Aug 11 2015 In : Journal of Medical Genetics. 52, 11, p. 754-761 8 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Mutation
Nose
Intellectual Disability
Nonsense Mediated mRNA Decay
2014
Methylmalonic Acid
Liver Transplantation
Kidney Transplantation
Renal Dialysis
Transplants

Clinical laboratory studies in barth syndrome

Vernon, H. J., Sandlers, Y., McClellan, R. & Kelley, R. I. 2014 In : Molecular Genetics and Metabolism. 112, 2, p. 143-147 5 p.

Research output: Contribution to journalArticle

Barth Syndrome
Callosities
Cholesterol
Arginine
Amino Acids

Clinical whole exome sequencing in child neurology practice

Srivastava, S., Cohen, J. S., Vernon, H., Barañano, K., McClellan, R., Jamal, L., Naidu, S. & Fatemi, A. Oct 1 2014 In : Annals of Neurology. 76, 4, p. 473-483 11 p.

Research output: Contribution to journalArticle

Exome
Neurology
Pediatrics
Inheritance Patterns
Pervasive Child Development Disorders
2013

6p25 microdeletion: White matter abnormalities in an adult patient

Vernon, H. J., Bytyci Telegrafi, A., Batista, D., Owegi, M. & Leigh, R. Jul 2013 In : American Journal of Medical Genetics, Part A. 161, 7, p. 1686-1689 4 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Chromosomes
White Matter
Unilateral Hearing Loss
Genetic Services
2011

Dysmorphology

Vernon, H. T. Dec 21 2011 Oski's Pediatric Certification and Recertification Board Review. Wolters Kluwer Health

Research output: Chapter in Book/Report/Conference proceedingChapter

In vitro models to study the blood brain barrier

Vernon, H., Clark, K. & Bressler, J. P. 2011 Methods in Molecular Biology. Humana Press Inc., Vol. 758, p. 153-168 16 p. (Methods in Molecular Biology; vol. 758)

Research output: Chapter in Book/Report/Conference proceedingChapter

Blood-Brain Barrier
Brain
In Vitro Techniques
Microvessels
Endothelial Cells

Metabolism

Vernon, H. T. Dec 21 2011 Oski's Pediatric Certification and Recertification Board Review. Wolters Kluwer Health

Research output: Chapter in Book/Report/Conference proceedingChapter

2010

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria

Vernon, H. J., Koerner, C. B., Johnson, M. R., Bergner, A. & Hamosh, A. Jul 2010 In : Molecular Genetics and Metabolism. 100, 3, p. 229-233 5 p.

Research output: Contribution to journalArticle

Phenylketonurias
Standard of Care
Phenylalanine
Callosities
Nutrition
2005

Aprt/Opn double knockout mice: Osteopontin is a modifier of kidney stone disease severity

Vernon, H. J., Osborne, C., Tzortzaki, E. G., Yang, M., Chen, J., Rittling, S. R., Denhardt, D. T., Buyske, S., Bledsoe, S. B., Evan, A. P., Fairbanks, L., Simmonds, H. A., Tischfield, J. A. & Sahota, A. Sep 2005 In : Kidney International. 68, 3, p. 938-947 10 p.

Research output: Contribution to journalArticle

Adenine Phosphoribosyltransferase
Osteopontin
Kidney Calculi
Kidney Diseases
Knockout Mice
2003

Patient with a deletion of chromosome 21q and minimal phenotype [3]

Tinkel-Vernon, H., Finkernagel, S., Desposito, F., Pittore, C., Reynolds, K. & Sciorra, L. Jul 1 2003 In : American Journal of Medical Genetics. 120 A, 1, p. 142-143 2 p.

Research output: Contribution to journalArticle

Chromosome Deletion
Phenotype
1999

Jagged1 mutations in patients ascertained with isolated congenital heart defects

Krantz, I. D., Smith, R., Colliton, R. P., Tinkel, H., Zackai, E. H., Piccoli, D. A., Goldmuntz, E. & Spinner, N. B. May 7 1999 In : American Journal of Medical Genetics. 84, 1, p. 56-60 5 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Mutation
Alagille Syndrome
Pulmonary Valve Stenosis
Tetralogy of Fallot