Dimitra Dafou

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 503 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 308 citations

Medicine, Genetics, Molecular Genetics +13

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart et al. · The American Journal of Human Genetics · 2012 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Laura Southgate, Rajiv D. Machado, Katie Snape et al. · The American Journal of Human Genetics · 2011 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

3D In Vitro Model of a Functional Epidermal Permeability Barrier from Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

Anastasia Petrova, Anna Celli, Laureen Jacquet et al. · Stem Cell Reports · 2014 · 108 citations · Full text

Life Sciences, Cell Biology, Dermatology +14