| Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease PS Kishnani, D Corzo, M Nicolino, B Byrne, H Mandel, WL Hwu, N Leslie, ... Neurology 68 (2), 99-109, 2007 | 893 | 2007 |
| Fabry's disease YA Zarate, RJ Hopkin The Lancet 372 (9647), 1427-1435, 2008 | 802 | 2008 |
| Cleft palate and craniofacial anomalies: the effects on speech and resonance AW Kummer Taylor & Francis US, 2001 | 701 | 2001 |
| 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 | 601 | 2008 |
| 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 | 578 | 2018 |
| 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 | 550 | 2006 |
| 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 | 359 | 2008 |
| 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 | 318 | 2017 |
| Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience CA Valencia, A Husami, J Holle, JA Johnson, Y Qian, A Mathur, C Wei, ... Frontiers in pediatrics 3, 67, 2015 | 211 | 2015 |
| GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype–phenotype analysis of five families with deletions in the Williams syndrome region CA Morris, CB Mervis, HH Hobart, RG Gregg, J Bertrand, GJ Ensing, ... American journal of medical genetics Part A 123 (1), 45-59, 2003 | 209 | 2003 |
| Health supervision for children with neurofibromatosis type 1 DT Miller, D Freedenberg, E Schorry, NJ Ullrich, D Viskochil, BR Korf, ... Pediatrics 143 (5), 2019 | 193 | 2019 |
| Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference R Schiffmann, DA Hughes, GE Linthorst, A Ortiz, E Svarstad, DG Warnock, ... Kidney international 91 (2), 284-293, 2017 | 189 | 2017 |
| Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1 CE Prada, FA Rangwala, LJ Martin, AM Lovell, HM Saal, EK Schorry, ... The Journal of pediatrics 160 (3), 461-467, 2012 | 186 | 2012 |
| Enzyme therapy for lysosomal storage disease: principles, practice, and prospects GA Grabowski, RJ Hopkin Annual review of genomics and human genetics 4 (1), 403-436, 2003 | 156 | 2003 |
| Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry A Ortiz, A Abiose, DG Bichet, G Cabrera, J Charrow, DP Germain, ... Journal of Medical Genetics 53 (7), 495-502, 2016 | 152 | 2016 |
| The inconspicuous penis PS Bergeson, RJ Hopkin, RB Bailey Jr, LC MCGill, JP Piatt Pediatrics 92 (6), 794-799, 1993 | 151 | 1993 |
| Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations JJ Johnston, JC Sapp, JT Turner, D Amor, S Aftimos, KA Aleck, M Bocian, ... Human mutation 31 (10), 1142-1154, 2010 | 142 | 2010 |
| Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors DA Laney, RL Bennett, V Clarke, A Fox, RJ Hopkin, J Johnson, ... Journal of genetic counseling 22, 555-564, 2013 | 137 | 2013 |
| Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency N Krone, N Reisch, J Idkowiak, V Dhir, HE Ivison, BA Hughes, IT Rose, ... The Journal of Clinical Endocrinology & Metabolism 97 (2), E257-E267, 2012 | 137 | 2012 |
| The genetic landscape of familial congenital hydrocephalus R Shaheen, MA Sebai, N Patel, N Ewida, W Kurdi, I Altweijri, S Sogaty, ... Annals of neurology 81 (6), 890-897, 2017 | 134 | 2017 |
