Julie C. Sapp
Publications by Year
Research Areas
Vascular Malformations and Hemangiomas, Soft tissue tumor case studies, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting
Most-Cited Works
- → A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome(2011)880 cited
- → PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation(2014)554 cited
- → Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA(2012)317 cited
- → Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum(2014)305 cited
- → Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy(2018)280 cited
- → Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients(2007)240 cited
- → Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants(2018)214 cited
- → The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria(2012)160 cited
- → Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum(2018)155 cited
- → GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism(2016)147 cited