| Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease CM Eng, N Guffon, WR Wilcox, DP Germain, P Lee, S Waldek, L Caplan, ... New England Journal of Medicine 345 (1), 9-16, 2001 | 1898 | 2001 |
| Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy RJ Desnick, R Brady, J Barranger, AJ Collins, DP Germain, M Goldman, ... Annals of internal medicine 138 (4), 338-346, 2003 | 1015 | 2003 |
| Agalsidase-beta therapy for advanced Fabry disease: a randomized trial M Banikazemi, J Bultas, S Waldek, WR Wilcox, CB Whitley, M McDonald, ... Annals of internal medicine 146 (2), 77-86, 2007 | 744 | 2007 |
| Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 PL Tavormina, R Shiang, LM Thompson, YZ Zhu, DJ Wilkin, RS Lachman, ... Nature genetics 9 (3), 321-328, 1995 | 697 | 1995 |
| Fabry disease revisited: management and treatment recommendations for adult patients A Ortiz, DP Germain, RJ Desnick, J Politei, M Mauer, A Burlina, C Eng, ... Molecular genetics and metabolism 123 (4), 416-427, 2018 | 679 | 2018 |
| Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ... New england journal of medicine 375 (6), 545-555, 2016 | 659 | 2016 |
| Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry WR Wilcox, JP Oliveira, RJ Hopkin, A Ortiz, M Banikazemi, ... Molecular genetics and metabolism 93 (2), 112-128, 2008 | 636 | 2008 |
| Fabry disease: guidelines for the evaluation and management of multi-organ system involvement CM Eng, DP Germain, M Banikazemi, DG Warnock, C Wanner, RJ Hopkin, ... Genetics in Medicine 8 (9), 539-548, 2006 | 569 | 2006 |
| Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease DP Germain, S Waldek, M Banikazemi, DA Bushinsky, J Charrow, ... Journal of the American Society of Nephrology 18 (5), 1547-1557, 2007 | 562 | 2007 |
| Long-term safety and efficacy of enzyme replacement therapyfor fabry disease WR Wilcox, M Banikazemi, N Guffon, S Waldek, P Lee, GE Linthorst, ... The American Journal of Human Genetics 75 (1), 65-74, 2004 | 539 | 2004 |
| Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry CM Eng, J Fletcher, WR Wilcox, S Waldek, CR Scott, DO Sillence, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 506 | 2007 |
| Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ... Journal of medical genetics 54 (4), 288-296, 2017 | 484 | 2017 |
| Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy R Schiffmann, DG Warnock, M Banikazemi, J Bultas, GE Linthorst, ... Nephrology Dialysis Transplantation 24 (7), 2102-2111, 2009 | 483 | 2009 |
| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ... Nature genetics 33 (4), 487-491, 2003 | 481 | 2003 |
| Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene A Colige, AL Sieron, SW Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, ... The American Journal of Human Genetics 65 (2), 308-317, 1999 | 459 | 1999 |
| Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease DP Germain, J Charrow, RJ Desnick, N Guffon, J Kempf, RH Lachmann, ... Journal of medical genetics 52 (5), 353-358, 2015 | 431 | 2015 |
| Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing Y Xue, A Ankala, WR Wilcox, MR Hegde Genetics in Medicine 17 (6), 444-451, 2015 | 420 | 2015 |
| Clinical spectrum of fibroblast growth factor receptor mutations MR Passos‐Bueno, WR Wilcox, EW Jabs, AL Sertie, LG Alonso, H Kitoh Human mutation 14 (2), 115-125, 1999 | 371 | 1999 |
| Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life RY Wang, A Lelis, J Mirocha, WR Wilcox Genetics in Medicine 9 (1), 34-45, 2007 | 366 | 2007 |
| Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry RJ Hopkin, J Bissler, M Banikazemi, L Clarke, CM Eng, DP Germain, ... Pediatric research 64 (5), 550-555, 2008 | 365 | 2008 |
