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Julie C. Sapp | Researchclopedia

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Julie C. Sapp

77

Works

5,129

Citations

35

h-index

51

i10-index

Research Topics

Vascular Malformations and Hemangiomas Soft tissue tumor case studies Genomics and Rare Diseases

Affiliations

National Institutes of Health2007–2024

National Society of Genetic Counselors2013–2013

George Washington University2021–2021

Great Ormond Street Hospital2017–2017

National Human Genome Research Institute2007–2025

Top Works

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst,Julie C. Sapp,et al.

2011880 citations

Genetic and Kidney Cyst Diseases

Genetic Syndromes and Imprinting

<i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Kim M. Keppler‐Noreuil,Jonathan J. Rios,et al.

2014556 citations

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Marjorie J. Lindhurst,Victoria E R Parker,et al.

2012317 citations

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil,Julie C. Sapp,et al.

2014305 citations

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Lara Al-Olabi,Satyamaanasa Polubothu,et al.

2018280 citations

Newly delineated syndrome of <i>c</i>ongenital <i>l</i>ipomatous <i>o</i>vergrowth, <i>v</i>ascular malformations, and <i>e</i>pidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp,Joyce Turner,et al.

2007240 citations

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston,Jasper J. van der Smagt,et al.

2018214 citations

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Jennifer J. Johnston,Andrea Gropman,et al.

2012160 citations

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker,Kim M. Keppler‐Noreuil,et al.

2018155 citations