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 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

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 · 284 citations

Neuro-oncology, Developmental Biology, Ependyma +7

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 · 246 citations · Full text

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 · 195 citations · Full text

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

Mendelian Disorder, Genetic Disorder, Genetics +9