Magdalena E. Tyburczy

机构：Instytut Hematologii i Transfuzjologi

发表论文 35 篇 · 总被引 1197 次 · h-index 14

代表论文

• Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing (2015 · PLoS Genetics · 被引 305)
• Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma (2016 · Clinical Cancer Research · 被引 230)
• Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development (2016 · PLoS Genetics · 被引 130)
• Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission (2019 · Genetics in Medicine · 被引 63)
• Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation (2016 · Journal of Clinical Investigation · 被引 57)
• Phenotypic distinctions between mosaic forms of tuberous sclerosis complex (2019 · Genetics in Medicine · 被引 41)