C. Anthony Rupar - Concepedia

Author

C. Anthony Rupar

Also Known As

C A Rupar, C Anthony Rupar, C Rupar, C. A. RUPAR, C. A. Rupar, C. Anthony Rupar, C. Rupar, C.A. Rupar, C.Anthony Rupar, Charles A Rupar

112

Publications

2.6K

Citations

H-Index

103

Concepts

All Affiliations

Western University Children’s Health Research Institute London Health Sciences Centre University of Toronto Hospital for Sick Children

About

C. Anthony Rupar is an author at Western University specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	23	986
2	Health Sciences	3	3	88
3	Natural Sciences	3	3	163
4	Public Health	1	1	28
5	Social Sciences	1	1	41

C. Anthony Rupar

Publications

Citations

H-Index

Page 1

	Year	Citations
Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial Carolina R. A. Silveira, Julia MacKinley, Kristy Coleman, BMC Neurology	2019	128
Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Journal of Molecular Diagnostics BioinformaticsSequencingMedicineGeneticsNext-generation Sequencing	2017	124
Lentivirus-mediated gene therapy for Fabry disease Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Nature Communications	2021	115
Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiency Sali M.K. Farhan, Jian Wang, John F. Robinson, Molecular Genetics & Genomic Medicine	2013	91
The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model Lauren E. Cipriano, C. Anthony Rupar, Gregory S. Zaric Value in Health Early DiagnosisNewborn ScreeningNeonatologyNeonatal GenomicsDecision-analytic Model	2007	83
Occurrence of dolichol in human tissues C. Anthony Rupar, K. K. Carroll Lipids Lipid NutritionMedicinePhysiologyForensic ToxicologyChemical Pathology	1978	81
Isolated Sulfite Oxidase Deficiency C. Anthony Rupar, James W. Gillett, Blair R. G. Gordon, Neuropediatrics Electrolyte DisorderSulfite OxidaseChemical BiologyRedox BiologySulfur Metabolism	1996	78
Update on transcobalamin deficiency: clinical presentation, treatment and outcome Yannis Trakadis, Ahmed Alfares, Olaf A. Bodamer, Journal of Inherited Metabolic Disease	2013	78
Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver. Jack W. Rip, C. Anthony Rupar, Nilabh Chaudhary, Journal of Biological Chemistry BiochemistryNatural SciencesLiver PhysiologyPhysiologyPlasma Membranes	1981	74
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Piya Lahiry, Jian Wang, John F. Robinson, The American Journal of Human Genetics Developmental BiologySignal TransductionSignaling PathwayCentral NervousMultiplex Human Syndrome	2009	72

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