Rosalie A. Kampen

机构：Leiden University Medical Center, Oncode Institute

发表论文 13 篇 · 总被引 54 次 · h-index 5

代表论文

• Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (2022 · Genetics in Medicine · 被引 31)
• SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder (2022 · medRxiv · 被引 8)
• SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder (2025 · Nature Communications · 被引 5)
• Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (2023 · Genetics in Medicine · 被引 5)
• Gestational oxidative stress protects against adult obesity and insulin resistance (2019 · Redox Biology · 被引 5)
• DNA end-resection is stimulated by an interaction between BRCA1 exon 11 and TOPBP1 (2026 · EMBO Reports)