Gökhan Uyanık

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Juliane Najm, Denise Horn, Isabella Wimplinger et al. · Nature Genetics · 2008 · 289 citations

Medicine, Genetics, Neuroscience +12

The core <i>FOXG1</i> syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Fanny Kortüm, Soma Das, M. Flindt et al. · Journal of Medical Genetics · 2011 · 247 citations

Life Sciences, Genetics, Molecular Genetics +17

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Ravinesh A. Kumar, Daniela T. Pilz, Timothy D. Babatz et al. · Human Molecular Genetics · 2010 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Gökhan Uyanık, Pervin Dinçer, Tobias Willer et al. · Neuromuscular Disorders · 2005 · 178 citations

Life Sciences, Genetics, Molecular Genetics +11