Robert J. Desnick

机构：Mount Sinai Health System, Icahn School of Medicine at Mount Sinai · ORCID：0000-0001-5501-2971

发表论文 1281 篇 · 总被引 46733 次 · h-index 112

代表论文

• Anderson–Fabry disease management: role of the cardiologist (2024 · European Heart Journal · 被引 55)
• Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation (2023 · The American Journal of Human Genetics · 被引 36)
• Dersimelagon in Erythropoietic Protoporphyrias (2023 · New England Journal of Medicine · 被引 34)
• ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice (2021 · Molecular Therapy · 被引 23)
• Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA–mediated silencing (2024 · Science · 被引 20)
• Pain in acute hepatic porphyrias: Updates on pathophysiology and management (2022 · Frontiers in Neurology · 被引 20)