Homozygous mutation in ELMO2 may cause Ramon syndrome

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

(2016) Arda Cetinkaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ClipR-59 Interacts with Elmo2 and Modulates Myoblast Fusion

(2015) Yingmin Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A missense mutation underlies defective SOCS4 function in a family with autoimmunity

(2015) P. Arts et al.   JOURNAL OF INTERNAL MEDICINE

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

(2013) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Atypical Guanine Nucleotide Exchange Factor Dock4 Regulates Neurite Differentiation through Modulation of Rac1 GTPase and Actin Dynamics

(2013) Yangui Xiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rac GEF Dock4 interacts with cortactin to regulate dendritic spine formation

(2013) Shuhei Ueda et al.   MOLECULAR BIOLOGY OF THE CELL

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

CIIA functions as a molecular switch for the Rac1-specific GEF activity of SOS1

(2011) Hyun Sub Hwang et al.   JOURNAL OF CELL BIOLOGY