| Survival after treatment with phenylacetate and benzoate for urea-cycle disorders GM Enns, SA Berry, GT Berry, WJ Rhead, SW Brusilow, A Hamosh New England Journal of Medicine 356 (22), 2282-2292, 2007 | 420 | 2007 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 310 | 2017 |
| ‘Classical’organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long‐term outcome and effects of expanded newborn screening using tandem mass … C Dionisi‐Vici, F Deodato, W Röschinger, W Rhead, B Wilcken Journal of inherited metabolic disease 29 (2-3), 383-389, 2006 | 292 | 2006 |
| Phenylketonuria in adulthood: a collaborative study R Koch, B Burton, G Hoganson, R Peterson, W Rhead, B Rouse, R Scott, ... Journal of inherited metabolic disease 25, 333-346, 2002 | 266 | 2002 |
| Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation DM Kurtz, P Rinaldo, WJ Rhead, L Tian, DS Millington, J Vockley, ... Proceedings of the National Academy of Sciences 95 (26), 15592-15597, 1998 | 261 | 1998 |
| Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease YH Messinger, NJ Mendelsohn, W Rhead, D Dimmock, E Hershkovitz, ... Genetics in medicine 14 (1), 135-142, 2012 | 227 | 2012 |
| US Newborn screening system guidelines II: Follow-up of children, diagnosis, management, and evaluation statement of the Council of Regional Networks for Genetic Services (CORN) KA Pass, PA Lane, PM Fernhoff, CF Hinton, SR Panny, JS Parks, ... The Journal of pediatrics 137 (4), S1-S47, 2000 | 223 | 2000 |
| Agalsidase alfa and kidney dysfunction in Fabry disease M West, K Nicholls, A Mehta, JTR Clarke, R Steiner, M Beck, BA Barshop, ... Journal of the American Society of Nephrology 20 (5), 1132-1139, 2009 | 221 | 2009 |
| Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. BA Amendt, C Greene, L Sweetman, J Cloherty, V Shih, A Moon, L Teel, ... The Journal of clinical investigation 79 (5), 1303-1309, 1987 | 219 | 1987 |
| Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. T Aoyama, M Souri, S Ushikubo, T Kamijo, S Yamaguchi, RI Kelley, ... The Journal of clinical investigation 95 (6), 2465-2473, 1995 | 185 | 1995 |
| A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase T Aoyama, Y Uchida, RI Kelley, M Marble, K Hofman, JH Tonsgard, ... Biochemical and biophysical research communications 191 (3), 1369-1372, 1993 | 180 | 1993 |
| Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency M Juhl Corydon, J Vockley, P Rinaldo, W James Rhead, M Kjeldsen, ... Pediatric research 49 (1), 18-23, 2001 | 155 | 2001 |
| Unmasked adult-onset urea cycle disorders in the critical care setting ML Summar, F Barr, S Dawling, W Smith, B Lee, RH Singh, WJ Rhead, ... Critical care clinics 21 (4), S1-S8, 2005 | 154 | 2005 |
| Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency Y Matsubara, K Narisawa, S Miyabayashi, K Tada, PM Coates, ... Biochemical and biophysical research communications 171 (1), 498-505, 1990 | 140 | 1990 |
| Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ... The American Journal of Human Genetics 90 (2), 282-289, 2012 | 137 | 2012 |
| Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse KB Cox, DA Hamm, DS Millington, D Matern, J Vockley, P Rinaldo, ... Human molecular genetics 10 (19), 2069-2077, 2001 | 135 | 2001 |
| Sudden child death andHealthy'affected family members with medium-chain acyl-coenzyme a dehydrogenase deficiency M Duran, M Hofkamp, WJ Rhead, JM Saudubray, SK Wadman Pediatrics 78 (6), 1052-1057, 1986 | 133 | 1986 |
| Dicarboxylic aciduria: deficient [1-14C] octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts WJ Rhead, BA Amendt, KS Fritchman, SJ Felts Science 221 (4605), 73-75, 1983 | 133 | 1983 |
| Evidence for Intermediate Channeling in Mitochondrial β-Oxidation (∗) MA Nada, WJ Rhead, H Sprecher, H Schulz, CR Roe Journal of Biological Chemistry 270 (2), 530-535, 1995 | 128 | 1995 |
| Complementation analysis of fatty acid oxidation disorders. A Moon, WJ Rhead The Journal of clinical investigation 79 (1), 59-64, 1987 | 124 | 1987 |
