Asuman Koparır

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

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

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Asuman Koparır, Güney Bademci, Joseph Foster et al. · Orphanet Journal of Rare Diseases · 2015 · 53 citations · Full text

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

Rocío N. Villar‐Quiles, Fabio Catervi, Éva Cabet et al. · Annals of Neurology · 2019 · 21 citations · Full text

Poikiloderma with neutropenia: Genotype‐ethnic origin correlation, expanding phenotype and literature review

Asuman Koparır, Alper Gezdirici, Erkan Koparir et al. · American Journal of Medical Genetics Part A · 2014 · 20 citations