Joyce Turner
Children's National(US)
Publications by Year
Research Areas
Vascular Malformations and Hemangiomas, Hedgehog Signaling Pathway Studies, Congenital Diaphragmatic Hernia Studies, Glioma Diagnosis and Treatment, Neonatal Respiratory Health Research
Most-Cited Works
- → A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome(2011)880 cited
- → DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies(2018)362 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients(2007)240 cited
- → Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases(2004)238 cited
- → Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model(2015)154 cited
- → DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry(2017)129 cited
- → Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations(2010)128 cited
- → Hedgehog Signaling Regulates Sensory Cell Formation and Auditory Function in Mice and Humans(2008)112 cited
- → Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model(2018)112 cited