Richard Steet

机构：Greenwood Genetic Center · ORCID：0000-0002-0975-4963

发表论文 104 篇 · 总被引 2854 次 · h-index 30

代表论文

• Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease (2023 · Kidney International · 被引 40)
• O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder (2024 · Cell Reports · 被引 12)
• Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders (2024 · iScience · 被引 12)
• Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants (2023 · Human Molecular Genetics · 被引 11)
• Base editing corrects the common Salla disease SLC17A5 c.115C>T variant (2023 · Molecular Therapy — Nucleic Acids · 被引 11)
• Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency (2022 · JIMD Reports · 被引 7)