Margot E. Bowen

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kyle C. Kurek, Valerie L. Luks, Ugur M. Ayturk et al. · The American Journal of Human Genetics · 2012 · 519 citations · Full text

Genetic Disorder, Genetics, Pathology +2

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders

Eliezer Calo, Bo Gu, Margot E. Bowen et al. · Nature · 2018 · 166 citations · Full text

Chromatin, Developmental Biology, Stress +10

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm et al. · PLoS Genetics · 2011 · 165 citations · Full text

Multiple Enchondromatosis Syndromes, Genetics, Pathology +17

Efficient Mapping and Cloning of Mutations in Zebrafish by Low-Coverage Whole-Genome Sequencing

Margot E. Bowen, Katrin Henke, Kellee R. Siegfried et al. · Genetics · 2011 · 92 citations · Full text

Sclerostin Inhibition Reverses Skeletal Fragility in an Lrp5-Deficient Mouse Model of OPPG Syndrome

Rajendra Kedlaya, Shreya S. Veera, Daniel J. Horan et al. · Science Translational Medicine · 2013 · 76 citations · Full text