Hilary Vallance - Concepedia

Author

Hilary Vallance

Also Known As

H VALLANCE, H Vallance, H. D. Vallance, H. Vallance, H., Vallance, H.D. Vallance, HD Vallance, HILARY VALLANCE, Hilary D Vallance, Hilary D. Vallance

106

Publications

3.4K

Citations

H-Index

116

Concepts

All Affiliations

University of British Columbia BC Children's Hospital Children's & Women's Health Centre of British Columbia Child and Family Research Institute University of Alberta

About

Hilary Vallance is an author at University of British Columbia specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	27	2K
2	Health Sciences	5	5	224
3	Public Health	3	3	91
4	Biochemistry	3	3	269
5	Natural Sciences	2	2	246

Hilary Vallance

Publications

Citations

H-Index

Page 1

	Year	Citations
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar, Nature Genetics Developmental BiologyGeneticsPathologyInfantile Arterial CalcificationVascular Biology	2003	592
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project David McHugh, Cynthia A. Cameron, José E. Abdenur, Genetics in Medicine Metabolic SyndromeNewborn ScreeningMetabolic DisorderMass SpectrometryPediatrics	2011	349
Exome Sequencing and the Management of Neurometabolic Disorders Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, New England Journal of Medicine	2016	274
<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen, Science UrologySomatic VariantAldehyde DehydrogenaseBiochemistryGenetic Disorder	2010	192
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase David Dimmock, Q. Zhang, Carlo Dionisi‐Vici, Human Mutation Deoxyguanosine KinaseDna DamageGeneticsMolecular BiologyPathology	2008	167
Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy Irina Zaharieva, Michael G. Thor, Emily C. Oates, Brain Congenital MyopathyMuscle FunctionGeneticsPathologyClinical Genetics	2015	120
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross, The American Journal of Human Genetics	2014	104
D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? Marjo S. van der Knaap, C. Jakobs, Georg F. Hoffmann, Annals of Neurology	1999	80
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations Cheryl R. Greenberg, Louise A. Dilling, Gilbert R. Thompson, Molecular Genetics and Metabolism BiologyCanadian Aboriginal PopulationsPhylogeneticsNatural SciencesGenetics	2009	79
A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation Hilary Vallance, G. Jeven, Douglas C. Wallace, Pediatric Cardiology CardiomyopathyMendelian DisorderGenetic DisorderGeneticsPathology	2004	69

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