| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation PS Tarpey, F Lucy Raymond, LS Nguyen, J Rodriguez, A Hackett, ... Nature genetics 39 (9), 1127-1133, 2007 | 296 | 2007 |
| Lysosomal storage disease: revealing lysosomal function and physiology EJ Parkinson-Lawrence, T Shandala, M Prodoehl, R Plew, GN Borlace, ... Physiology 25 (2), 102-115, 2010 | 290 | 2010 |
| Intestinal fructose transport and malabsorption in humans HF Jones, RN Butler, DA Brooks American Journal of Physiology-Gastrointestinal and Liver Physiology 300 (2 …, 2011 | 244 | 2011 |
| Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-l-iduronidase activity and reduces lysosomal glycosaminoglycan … KM Keeling, DA Brooks, JJ Hopwood, P Li, JN Thompson, DM Bedwell Human molecular genetics 10 (3), 291-300, 2001 | 219 | 2001 |
| Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. AC Crawley, DA Brooks, VJ Muller, BA Petersen, EL Isaac, J Bielicki, ... The Journal of clinical investigation 97 (8), 1864-1873, 1996 | 177 | 1996 |
| Syntaxin 7 is localized to late endosome compartments, associates with Vamp 8, and is required for late endosome–lysosome fusion BM Mullock, CW Smith, G Ihrke, NA Bright, M Lindsay, EJ Parkinson, ... Molecular biology of the cell 11 (9), 3137-3153, 2000 | 174 | 2000 |
| Mutational analysis of 105 mucopolysaccharidosis type VI patients L Karageorgos, DA Brooks, A Pollard, EL Melville, LK Hein, PR Clements, ... Human mutation 28 (9), 897-903, 2007 | 149 | 2007 |
| Endosomal NOX2 oxidase exacerbates virus pathogenicity and is a target for antiviral therapy EE To, R Vlahos, R Luong, ML Halls, PC Reading, PT King, C Chan, ... Nature communications 8 (1), 69, 2017 | 131 | 2017 |
| Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16. 3. HS Scott, LJ Ashton, HJ Eyre, E Baker, DA Brooks, DF Callen, ... American journal of human genetics 47 (5), 802, 1990 | 129 | 1990 |
| Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker PJ Meikle, DA Brooks, EM Ravenscroft, M Yan, RE Williams, ... Clinical chemistry 43 (8), 1325-1335, 1997 | 126 | 1997 |
| Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I R Kakavanos, CT Turner, JJ Hopwood, ED Kakkis, DA Brooks The Lancet 361 (9369), 1608-1613, 2003 | 113 | 2003 |
| Stop-codon read-through for patients affected by a lysosomal storage disorder DA Brooks, VJ Muller, JJ Hopwood Trends in molecular medicine 12 (8), 367-373, 2006 | 112 | 2006 |
| Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. HS Scott, T Litjens, PV Nelson, PR Thompson, DA Brooks, JJ Hopwood, ... American journal of human genetics 53 (5), 973, 1993 | 112 | 1993 |
| Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder DA Brooks, R Kakavanos, JJ Hopwood Trends in molecular medicine 9 (10), 450-453, 2003 | 111 | 2003 |
| α-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients LK Hein, M Bawden, VJ Muller, D Sillence, JJ Hopwood, DA Brooks Journal of molecular biology 338 (3), 453-462, 2004 | 109 | 2004 |
| Lysosomal biogenesis in lysosomal storage disorders LE Karageorgos, EL Isaac, DA Brooks, EM Ravenscroft, R Davey, ... Experimental cell research 234 (1), 85-97, 1997 | 105 | 1997 |
| Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients U Matte, G Yogalingam, D Brooks, S Leistner, I Schwartz, L Lima, ... Molecular genetics and metabolism 78 (1), 37-43, 2003 | 101 | 2003 |
| α‐L‐iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype HS Scott, T Litjens, PV Nelson, DA Brooks, JJ Hopwood, CP Morris Human mutation 1 (4), 333-339, 1992 | 99 | 1992 |
| Early origins of heart disease: low birth weight and determinants of cardiomyocyte endowment KJ Botting, KCW Wang, M Padhee, IC McMillen, B Summers‐Pearce, ... Clinical and Experimental Pharmacology and Physiology 39 (9), 814-823, 2012 | 98 | 2012 |
| Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype JJ Hopwood, A Vellodi, HS Scott, CP Morris, T Litjens, PR Clements, ... Journal of inherited metabolic disease 16, 1024-1033, 1993 | 96 | 1993 |
