Julie C. Sapp

机构：National Human Genome Research Institute · ORCID：0000-0002-4003-258X

发表论文 79 篇 · 总被引 5330 次 · h-index 36

代表论文

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy (2018 · Journal of Clinical Investigation · 被引 295)
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018 · Genetics in Medicine · 被引 232)
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum (2018 · Genetics in Medicine · 被引 161)
GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism (2016 · The American Journal of Human Genetics · 被引 152)
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome (2019 · The American Journal of Human Genetics · 被引 95)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy (2018 · Journal of Clinical Investigation · 被引 67)