| Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: first results from Turkey N Emiralioğlu, EZ Taşkıran, C Koşukcu, E Bilgiç, P Atilla, B Kaya, ... Pediatric pulmonology 55 (2), 383-393, 2020 | 60 | 2020 |
| Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD EZ Taskiran, E Korkmaz, S Gucer, C Kosukcu, F Kaymaz, C Koyunlar, ... Journal of the American Society of Nephrology 25 (8), 1653-1661, 2014 | 53 | 2014 |
| Whole exome sequencing in early-onset systemic lupus erythematosus ED Batu, C Koşukcu, E Taşkıran, S Sahin, S Akman, B Sözeri, E Ünsal, ... The Journal of Rheumatology 45 (12), 1671-1679, 2018 | 48 | 2018 |
| HERC1 mutations in idiopathic intellectual disability GE Utine, EZ Taşkıran, C Koşukcu, B Karaosmanoğlu, N Güleray, ... European Journal of Medical Genetics 60 (5), 279-283, 2017 | 44 | 2017 |
| Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome PO Simsek‐Kiper, E Taskiran, C Kosukcu, UE Arslan, V Cormier‐Daire, ... American Journal of Medical Genetics Part A 179 (7), 1157-1172, 2019 | 23 | 2019 |
| Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency TH Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G ... Neuropediatrics, 2017 | 20 | 2017 |
| Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? C Kosukcu, EZ Taskiran, ED Batu, E Sag, Y Bilginer, M Alikasifoglu, ... Rheumatology 60 (2), 607-616, 2021 | 19 | 2021 |
| The effects of larval diet restriction on developmental time, preadult survival, and wing length in Drosophila melanogaster P Güler, N Ayhan, CAN Koşukcu, BŞ ÖNDER Turkish Journal of Zoology 39 (3), 395-403, 2015 | 19 | 2015 |
| Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability EZ Taşkıran, B Karaosmanoğlu, C Koşukcu, G Ürel‐Demir, ... Journal of Intellectual Disability Research 65 (6), 577-588, 2021 | 17 | 2021 |
| Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome EZ Taskiran, B Karaosmanoglu, C Koşukcu, ÖA Doğan, ... American Journal of Medical Genetics Part A 173 (12), 3143-3152, 2017 | 14 | 2017 |
| Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings Y Yıldız, C Koşukcu, D Aygün, M Akçaboy, FZ Öztek Çelebi, Y Taşcı Yıldız, ... Clinical Genetics 100 (3), 308-317, 2021 | 12 | 2021 |
| Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: a rare disorder with neurologic regression and skeletal features E Kındış, PÖ Simsek‐Kiper, C Koşukcu, EZ Taşkıran, R Göçmen, E Utine, ... American Journal of Medical Genetics Part A 185 (6), 1888-1896, 2021 | 12 | 2021 |
| A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet’s Disease EZ Taskiran, HE Sonmez, C Kosukcu, E Tavukcuoglu, G Yazici, ... Journal of Clinical Immunology 39, 99-105, 2019 | 11 | 2019 |
| Hyperinsulinemic hypoglycemia in a patient with Costello syndrome: An etiology to consider in hypoglycemia D Vuralli, C Kosukcu, E Taskiran, PO Simsek-Kiper, GE Utine, ... Molecular Syndromology 11 (4), 207-216, 2020 | 10 | 2020 |
| Recurrent demyelinating episodes as sole manifestation of inherited CD59 deficiency I Solmaz, ES Aytekin, D Çağdaş, C Tan, I Tezcan, R Gocmen, G Haliloglu, ... Neuropediatrics 51 (03), 206-210, 2020 | 9 | 2020 |
| Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum ÖA Doğan, GÜ Demir, C Kosukcu, EZ Taskiran, PÖ Simsek-Kiper, ... European journal of medical genetics 62 (6), 103535, 2019 | 9 | 2019 |
| Atypical presentation of Sengers syndrome: a novel mutation revealed with postmortem genetic testing N Guleray, C Kosukcu, ZE Taskiran, PO Simsek Kiper, GE Utine, S Gucer, ... Fetal and pediatric pathology 39 (2), 163-171, 2020 | 8 | 2020 |
| A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate PO Simsek-Kiper, C Kosukcu, O Akgun-Dogan, R Gocmen, GE Utine, ... European journal of medical genetics 62 (1), 21-26, 2019 | 7 | 2019 |
| Lymphocyte subgroups and KREC numbers in common variable immunodeficiency: a single center study I Yaz, B Ozbek, YY Ng, PG Cetinkaya, SO Halacli, C Tan, M Kasikci, ... Journal of clinical immunology 40, 494-502, 2020 | 6 | 2020 |
| Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis EZ Taşkıran, HE Sönmez, DÇ Ayvaz, C Koşukcu, ED Batu, S Esenboğa, ... Clinical immunology (Orlando, Fla.) 187, 92-94, 2018 | 6 | 2018 |
