Erkan Koparir

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

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca, Stefan Weitzer, Davut Pehli̇van et al. · Cell · 2014 · 220 citations · Full text

Affecting Both Peripheral, Knockout Mouse, Genome Instability +8

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Bo Yuan, Davut Pehli̇van, Ender Karaca et al. · Journal of Clinical Investigation · 2015 · 155 citations · Full text

Genetics, Pathology, Disease Gene Identification +19

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mala Isrie, Martin W. Breuss, Guoling Tian et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis et al. · Human Mutation · 2012 · 67 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +23