Marjorie J. Lindhurst

机构：National Institutes of Health, National Human Genome Research Institute · ORCID：0000-0001-8816-9879

发表论文 33 篇 · 总被引 3457 次 · h-index 17

代表论文

• A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome (2011 · New England Journal of Medicine · 被引 917)
• PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation (2014 · American Journal of Medical Genetics Part A · 被引 589)
• Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (2012 · Nature Genetics · 被引 332)
• Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum (2014 · American Journal of Medical Genetics Part A · 被引 319)
• Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy (2018 · Journal of Clinical Investigation · 被引 295)
• Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum (2018 · Genetics in Medicine · 被引 161)