| Distribution, metabolism and function of dolichol and polyprenols JW Rip, CA Rupar, K Ravi, KK Carroll Progress in lipid research 24 (4), 269-309, 1985 | 220 | 1985 |
| Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting B Winchester, D Bali, OA Bodamer, C Caillaud, E Christensen, A Cooper, ... Molecular genetics and metabolism 93 (3), 275-281, 2008 | 216 | 2008 |
| Clinical validation of copy number variant detection from targeted next-generation sequencing panels J Kerkhof, LC Schenkel, J Reilly, S McRobbie, E Aref-Eshghi, A Stuart, ... The Journal of Molecular Diagnostics 19 (6), 905-920, 2017 | 126 | 2017 |
| Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: Protocol for a single-centre, randomized, double-blind, placebo-controlled trial CRA Silveira, J MacKinley, K Coleman, Z Li, E Finger, R Bartha, ... BMC neurology 19, 1-10, 2019 | 119 | 2019 |
| Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ... Clinical genetics 92 (3), 281-289, 2017 | 108 | 2017 |
| The cost‐effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision‐analytic model LE Cipriano, CA Rupar, GS Zaric Value in Health 10 (2), 83-97, 2007 | 107 | 2007 |
| Occurrence of dolichol in human tissues CA Rupar, KK Carroll Lipids 13 (4), 291-293, 1978 | 99 | 1978 |
| Update on transcobalamin deficiency: clinical presentation, treatment and outcome YJ Trakadis, A Alfares, OA Bodamer, M Buyukavci, J Christodoulou, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2014 | 84 | 2014 |
| Isolated sulfite oxidase deficiency CA Rupar, J Gillett, BA Gordon, DA Ramsay, JL Johnson, RM Garrett, ... Neuropediatrics 27 (06), 299-304, 1996 | 82 | 1996 |
| Localization of a dolichyl phosphate phosphatase in plasma membranes of rat liver. JW Rip, CA Rupar, N Chaudhary, KK Carroll Journal of Biological Chemistry 256 (4), 1929-1934, 1981 | 81 | 1981 |
| Pyruvate dehydrogenase deficiency and epilepsy C Prasad, T Rupar, AN Prasad Brain and Development 33 (10), 856-865, 2011 | 80 | 2011 |
| Lentivirus-mediated gene therapy for Fabry disease A Khan, DL Barber, JU Huang, CA Rupar, JW Rip, C Auray-Blais, ... Nature communications 12 (1), 1178, 2021 | 78 | 2021 |
| Heparin cofactor II–thrombin complex: A biomarker of MPS disease DR Randall, KE Colobong, H Hemmelgarn, GB Sinclair, E Hetty, ... Molecular genetics and metabolism 94 (4), 456-461, 2008 | 74 | 2008 |
| Quantitative and qualitative comparison of gall bladder mucus glycoprotein from patients with and without gall stones. PR Harvey, CA Rupar, S Gallinger, CN Petrunka, SM Strasberg Gut 27 (4), 374-381, 1986 | 74 | 1986 |
| Menkes disease and infantile epilepsy AN Prasad, S Levin, CA Rupar, C Prasad Brain and Development 33 (10), 866-876, 2011 | 73 | 2011 |
| A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems P Lahiry, J Wang, JF Robinson, JP Turowec, DW Litchfield, MB Lanktree, ... The American Journal of Human Genetics 84 (2), 134-147, 2009 | 73 | 2009 |
| Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy AN Prasad, CA Rupar, C Prasad Brain and Development 33 (9), 758-769, 2011 | 70 | 2011 |
| In vitro cytotoxicity and antibiotic activity of polymyxin B nonapeptide AK Duwe, CA Rupar, GB Horsman, SI Vas Antimicrobial Agents and Chemotherapy 30 (2), 340-341, 1986 | 70 | 1986 |
| Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency SMK Farhan, J Wang, JF Robinson, P Lahiry, VM Siu, C Prasad, ... Molecular genetics & genomic medicine 2 (1), 73-80, 2014 | 68 | 2014 |
| Metabolomics profiling of concussion in adolescent male hockey players: a novel diagnostic method M Daley, G Dekaban, R Bartha, A Brown, TC Stewart, T Doherty, L Fischer, ... Metabolomics 12, 1-9, 2016 | 60 | 2016 |
