Robert J. Hopkin

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 759 citations · Full text

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin et al. · Molecular Genetics and Metabolism · 2007 · 526 citations

Fabry Disease, Mendelian Disorder, Pathology +5

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Robert J. Hopkin, John J. Bissler, Maryam Banikazemi et al. · Pediatric Research · 2008 · 297 citations · Full text

Fabry Disease, Mendelian Disorder, Pediatric Patients +3

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region

Colleen A. Morris, Carolyn Β. Mervis, Holly H. Hobart et al. · American Journal of Medical Genetics Part A · 2003 · 182 citations