Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing von Balci, T.B., Hartley, T., Xi, Y., Dyment, D.A., Beaulieu, C.L., Bernier, F.P., Dupuis, L., Horvath, G.A., Mendoza‐Londono, R., Prasad, C., Richer, J., Yang, X.‐R., Armour, C.M., Bareke, E., Fernandez, B.A., McMillan, H.J., Lamont, R.E., Majewski, J., Parboosingh, J.S., Prasad, A.N., Rupar, C.A., Schwartzentruber, J., Smith, A.C., Tétreault, M., Innes, A.M., Boycott, K.M.

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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria von Prasad, Chitra, Salvadori, Marina I., Rupar, C.A.

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Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults von Cartagena, A., Prasad, A.N., Rupar, C.A., Strong, M., Tuchman, M., Mew, N. Ah, Prasad, C.

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Rapid and efficient stable gene transfer to mesenchymal stromal cells using a modified foamy virus vector von Sweeney, NP, Regan, C, Liu, J, Galleu, A, Dazzi, F, Lindemann, D, Rupar, CA, McClure, M

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Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease,... von McCready, M.E., Carson, N.L., Chakraborty, P., Clarke, J.T.R., Callahan, J.W., Skomorowski, M.A., Chan, A.K.J., Bamforth, F., Casey, R., Rupar, C.A., Geraghty, M.T.

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Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adeno... von Pattison, Susan, Pankarican, Michael, Rupar, C. Anthony, Graham, Frank L., Igdoura, Suleiman A.

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CELLULAR BIOENERGETICS AND CEREBRAL DYSMORPHOGENESIS: LESSONS FROM AMISH MICROCEPHALY von Prasad, A, Rupar, CA, Prasad, C, Mok Siu, V

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A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population von Rupar, C Anthony, Matsell, Douglas, Surry, Susan, Siu, Victoria

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The Expanding Spectrum of Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency (Mcadd) from Trait to Lethality: Mcadd Experience Using the Canadian Paediatric Surveillance Program von Kronick, J, Prasad, C, Speechley, KN, Dyack, S, Rupar, CA, Chakraborty, P

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Isolated Sulfite Oxidase Deficiency von Rupar, C. A., Gillett, J., Gordon, B. A., Ramsay, D. A., Johnson, J. L., Garrett, R. M., Rajagopalan, K. V., Jung, J. H., Bacheyie, G. S., Sellers, A. R.

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Consequences of Aging on Mitochondrial Respiratory Chain Enzymes in Cultured Human Fibroblasts Treated with Ascorbate von Sharma, P., Rupar, C.A., Rip, J.W.

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Distribution, metabolism and function of dolichol and polyprenols von Rip, Jack W., Rupar, C.Anthony, Ravi, Kothapalli, Carroll, Kenneth K.

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PIH2 THE COST-EFFECTIVENESS OF EXPANDING NEWBORN SCREENING FOR INHERITED METABOLIC DISORDERS USING TANDEM MASS SPECTROMETRY von Cipriano, LE, Rupar, CA, Zaric, GS

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Nerve biopsy findings in Niemann-Pick type II (NPC) von HAHN, A. F, GILBERT, J. J, KWARCIAK, C, GILLETT, J, BOLTON, C. F, RUPAR, C. A, CALLAHAN, J. W

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Aspartylglucosaminuria in a Canadian family von GORDON, B. A, RUPAR, C. A, RIP, J. W, HAUST, M. D, COULTER-MACKIE, M. B, SCOTT, E, HINTON, G. G

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Medium‐chain acyl‐CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome von Rupar, C. A., Frewen, T. W., Gordon, B. A.

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Purification and structure of human liver aspartylglucosaminidase von RIP, J. W, COULTER-MACKIE, M. B, RUPAR, C. A, GORDON, B. A

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Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver von Rip, J W, Rupar, C A, Chaudhary, N, Carroll, K K

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Occurrence of dolichol in human tissues von Rupar, C. A., Carroll, K. K.

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Use of a genetic variant to study the hexose transport properties of human skin fibroblasts von Mesmer, O T, Gordon, B A, Rupar, C A, Lo, T C

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