Dilek Aktaş

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Ender Karaca, Tamar Harel, Davut Pehli̇van et al. · Neuron · 2015 · 332 citations · Full text

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho et al. · The American Journal of Human Genetics · 2010 · 312 citations · Full text

Sclerostin, Developmental Biology, Bone Morphogenic Protein +7

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Elif Uz, Yasemin Alanay, Dilek Aktaş et al. · The American Journal of Human Genetics · 2010 · 149 citations · Full text

Developmental Anomaly, Developmental Biology, Pathology +6

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 105 citations · Full text

Functional Genomics, Medicine, Genetics +6

A Homozygous Deletion in <i>GRID2</i> Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

Gülen Eda Ütine, Göknur Haliloğlu, Bilge Volkan Salancı et al. · Journal of Child Neurology · 2013 · 72 citations

Neurological Disorder, Genetics, Synaptic Signaling +20