| DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN F Ozaltin, B Li, A Rauhauser, SW An, O Soylemezoglu, II Gonul, ... Journal of the American Society of Nephrology 24 (3), 377-384, 2013 | 172 | 2013 |
| Disruption of PTPRO causes childhood-onset nephrotic syndrome F Ozaltin, T Ibsirlioglu, EZ Taskiran, DE Baydar, F Kaymaz, M Buyukcelik, ... The American Journal of Human Genetics 89 (1), 139-147, 2011 | 137 | 2011 |
| MEFV mutations in systemic onset juvenile idiopathic arthritis NA Ayaz, S Özen, Y Bilginer, M Ergüven, E Taşkıran, E Yılmaz, N Beşbaş, ... Rheumatology 48 (1), 23-25, 2009 | 108 | 2009 |
| A case series of adenosine deaminase 2-deficient patients emphasizing treatment and genotype-phenotype correlations ED Batu, O Karadag, EZ Taskiran, U Kalyoncu, I Aksentijevich, ... The Journal of rheumatology 42 (8), 1532-1534, 2015 | 107 | 2015 |
| A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2 S Özen, ED Batu, EZ Taşkıran, HA Özkara, Ş Ünal, N Güleray, A Erden, ... The Journal of rheumatology 47 (1), 117-125, 2020 | 79 | 2020 |
| The effect of colchicine on pyrin and pyrin interacting proteins EZ Taskiran, A Cetinkaya, B Balci‐Peynircioglu, YZ Akkaya, E Yilmaz Journal of cellular biochemistry 113 (11), 3536-3546, 2012 | 62 | 2012 |
| 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 | 61 | 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 |
| Expression of ASC in renal tissues of familial mediterranean fever patients with amyloidosis: postulating a role for ASC in AA type amyloid deposition B Balci-Peynircioglu, AL Waite, P Schaner, ZE Taskiran, N Richards, ... Experimental biology and medicine 233 (11), 1324-1333, 2008 | 40 | 2008 |
| The effect of boron-containing nano-hydroxyapatite on bone cells M Gizer, S Köse, B Karaosmanoglu, EZ Taskiran, A Berkkan, M Timuçin, ... Biological Trace Element Research 193, 364-376, 2020 | 36 | 2020 |
| Human bone marrow mesenchymal stem cells secrete endocannabinoids that stimulate in vitro hematopoietic stem cell migration effectively comparable to beta-adrenergic stimulation S Köse, F Aerts-Kaya, ÇZ Köprü, E Nemutlu, B Kuşkonmaz, ... Experimental hematology 57, 30-41. e1, 2018 | 32 | 2018 |
| TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia Y Alanay, B Ergüner, E Utine, O Haçarız, POS Kiper, EZ Taşkıran, ... American Journal of Medical Genetics Part A 164 (2), 291-304, 2014 | 31 | 2014 |
| Loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling A Cetinkaya, JR Xiong, İ Vargel, K Kösemehmetoğlu, Hİ Canter, ... The American Journal of Human Genetics 99 (2), 299-317, 2016 | 28 | 2016 |
| FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs! LA Schuch, M Forstner, CK Rapp, Y Li, DEC Smith, MI Mendes, ... Clinical genetics 99 (6), 789-801, 2021 | 23 | 2021 |
| 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 D Ardicli, EZ Taskiran, C Kosukcu, C Temucin, KK Oguz, G Haliloglu, ... Neuropediatrics 48 (06), 477-481, 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 |
| Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency N Kandemir, D Vurallı, E Taşkıran, N Gönç, A Özön, A Alikaşifoğlu, ... Turk J Pediatr 54 (6), 570-575, 2012 | 19 | 2012 |
Pelin Ozlem Simsek-KiperHacettepe University Faculty of MedicineVerified email at hacettepe.edu.tr
