Research Output 1999 2017

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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 (Accepted/In press) In : Protein Science.

Research output: Research - peer-reviewArticle

Kinetics
Mutation
Aminoacylation
Genes
Amino Acyl-tRNA Synthetases
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: Research - peer-reviewArticle

Acyl-CoA Dehydrogenase
Metabolism
Health
Inborn Errors Metabolism
Newborn Infant

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: Research - peer-reviewArticle

cardiolipins
metabolomics
pathogenesis
metabolites
Cardiolipins

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: Research - peer-reviewArticle

Barth Syndrome
Cardiolipins
Therapeutics
Genotype
Exercise

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 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Lyases
Coenzyme A
Pregnancy
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Carnitine
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: Research - peer-reviewArticle

Ornithine Carbamoyltransferase
Urea
Chemical activation
Plasmas
Amino Acids

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: Research - peer-reviewArticle

Inborn Errors Metabolism
Therapeutics
Inborn Urea Cycle Disorder
Exome
Mitochondrial Diseases

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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

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

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: Research - peer-reviewArticle

Clinical laboratories
Plasmas
Barth Syndrome
Clinical Studies
Cholesterol

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: Research - peer-reviewArticle

Exome
Neurology
Pediatrics
Neurodevelopmental Disorders
Inheritance Patterns
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: Research - peer-reviewArticle

Leukoencephalopathies
Chromosomes
White Matter
Unilateral Hearing Loss
Genetic Services
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: Research - peer-reviewArticle

Phenylketonurias
Standard of Care
sapropterin
Phenylalanine
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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

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