Gözde Yeşil

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

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

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

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Cas Simons, Lachlan D. Rash, Joanna Crawford et al. · Nature Genetics · 2014 · 156 citations

Channelopathies, Hyperpolarization (Biology), Neurophysiology +8