Joyce Turner

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

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 872 citations · Full text

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

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, Jiddeke M. van de Kamp et al. · American Journal of Medical Genetics Part A · 2007 · 238 citations

Clove Syndrome, Vascular Malformation, Pathology +16

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

Mark A. Brenneman, Amanda Field, Jiandong Yang et al. · F1000Research · 2015 · 154 citations · Full text

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 127 citations · Full text