Julie Hoover‐Fong

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Frederick S. Kaplan, Meiqi Xu, Petra Seemann et al. · Human Mutation · 2008 · 448 citations

Medicine, Genetics, Molecular Genetics +15

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

Ravi Savarirayan, Melita Irving, Carlos A. Bacino et al. · New England Journal of Medicine · 2019 · 219 citations · Full text

Medicine, Clinical Sciences, Pharmacotherapy +6

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Nara Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos et al. · PLoS Genetics · 2010 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Heritability of Lung Disease Severity in Cystic Fibrosis

Lori L. Vanscoy, Scott M. Blackman, Joseph M. Collaco et al. · American Journal of Respiratory and Critical Care Medicine · 2007 · 198 citations · Full text

Life Sciences, Genetics, Human Genetics +16

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Ravi Savarirayan, Louise Tofts, Melita Irving et al. · The Lancet · 2020 · 198 citations

Medicine, Pediatrics, Pharmacotherapy +2