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Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

The Journal of Pediatrics · 2015 · Vol. 166(4) · pp. 1048–1054.e5

Valerie L. Luks✉(Boston Children's Hospital)Nolan Kamitaki(Harvard University)Matthew P. Vivero(Boston Children's Hospital)Wibke Uller(Boston Children's Hospital)Rashed Rab(Boston Children's Hospital)Judith V.M.G. Bovée(Leiden University Medical Center)Kristy L. Rialon(Boston Children's Hospital)Carlos J. Guevara(Boston Children's Hospital)Ahmad I. Alomari(Boston Children's Hospital)Arin K. Greene(Boston Children's Hospital)Steven J. Fishman(Boston Children's Hospital)Harry P. Kozakewich(Boston Children's Hospital)Reid A. Maclellan(Boston Children's Hospital)John B. Mulliken(Boston Children's Hospital)Reza Rahbar(Boston Children's Hospital)Samantha A. Spencer(Boston Children's Hospital)Cameron C. Trenor(Boston Children's Hospital)Joseph Upton(Boston Children's Hospital)David Zurakowski(Boston Children's Hospital)Jonathan A. Perkins(University of Washington)Andrew L. Kirsh(University of Washington)James T. Bennett(University of Washington)William B. Dobyns(University of Washington)Kyle C. Kurek(Boston Children's Hospital)Matthew L. Warman(Boston Children's Hospital)Steven A. McCarroll(Harvard University)Rudy Murillo(Boston Children's Hospital)

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Vascular Malformations and Hemangiomas Tumors and Oncological Cases Tuberous Sclerosis Complex ResearchSomatic cellMedicineLymphatic systemVascular anomalyInternal medicinePathologyGeneticsBiologySurgeryGene

MeSH terms

Abnormalities, MultipleChildChild, PreschoolDNAFemaleHumansInfantKlippel-Trenaunay-Weber SyndromeMaleMutationPolymerase Chain ReactionPhosphatidylinositol 3-KinasesLymphatic AbnormalitiesVascular MalformationsClass I Phosphatidylinositol 3-Kinases

Funding

Howard Hughes Medical Institute
Boston Children's Hospital
University of Washington
Universiteit Leiden
National Institutes of Health
Manton Center for Orphan Disease Research, Boston Children's Hospital

Citations

569

FWCI

41.31

field-weighted impact

References

Percentile

100%

vs. same field & year

Citations per year

References

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

Analytical Chemistry · 2011 · 2,715 citations

Primer3—new capabilities and interfaces

Nucleic Acids Research · 2012 · 9,647 citations

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