Eric Smeets

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok et al. · Human Mutation · 2010 · 146 citations · Full text

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 124 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik et al. · European Journal of Human Genetics · 2014 · 99 citations · Full text

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +9

Rett Syndrome

Eric Smeets, Karine Pelc, Bernard Dan · Molecular Syndromology · 2011 · 93 citations · Full text