| Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels A Sassi, S Lazaroski, G Wu, SM Haslam, M Fliegauf, F Mellouli, ... Journal of Allergy and Clinical Immunology 133 (5), 1410-1419. e13, 2014 | 210 | 2014 |
| The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency KR Engelhardt, ME Gertz, S Keles, AA Schäffer, EC Sigmund, C Glocker, ... Journal of Allergy and Clinical Immunology 136 (2), 402-412, 2015 | 195 | 2015 |
| Hematologically important mutations: leukocyte adhesion deficiency (first update) E Van de Vijver, A Maddalena, Ö Sanal, SM Holland, G Uzel, ... Blood Cells, Molecules, and Diseases 48 (1), 53-61, 2012 | 188 | 2012 |
| Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency R Lévy, S Okada, V Béziat, K Moriya, C Liu, LYA Chai, M Migaud, F Hauck, ... Proceedings of the National Academy of Sciences 113 (51), E8277-E8285, 2016 | 158 | 2016 |
| Comparison of primary human cytotoxic T cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine … SCC Chiang, J Theorell, M Entesarian, M Meeths, M Mastafa, W Al-Herz, ... Blood, blood-2012-07-442558, 2013 | 153 | 2013 |
| Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation AR Kim, JC Ulirsch, S Wilmes, E Unal, I Moraga, M Karakukcu, D Yuan, ... Cell 168 (6), 1053-1064. e15, 2017 | 111 | 2017 |
| Pediatric central nervous system tumors in the first 3 years of life: pre-operative mean platelet volume, neutrophil/lymphocyte count ratio, and white blood cell count … A Tumturk, MA Ozdemir, H Per, E Unal, A Kucuk, H Ulutabanca, ... Child's Nervous System 33, 233-238, 2017 | 98 | 2017 |
| Inherited biallelic CSF3R mutations in severe congenital neutropenia A Triot, PM Järvinen, JI Arostegui, D Murugan, N Kohistani, JLD Díaz, ... Blood, blood-2013-11-535419, 2014 | 94 | 2014 |
| Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations J Thalhammer, G Kindle, A Nieters, S Rusch, MRJ Seppänen, A Fischer, ... Journal of Allergy and Clinical Immunology 148 (5), 1332-1341. e5, 2021 | 91 | 2021 |
| Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease JC Ravell, M Matsuda-Lennikov, SD Chauvin, J Zou, M Biancalana, ... The Journal of clinical investigation 130 (1), 507-522, 2020 | 83 | 2020 |
| Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency S Ghosh, S Köstel Bal, ESJ Edwards, B Pillay, R Jiménez Heredia, ... Blood, The Journal of the American Society of Hematology 136 (23), 2638-2655, 2020 | 77 | 2020 |
| Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency JR Farmer, Z Foldvari, B Ujhazi, SS De Ravin, K Chen, JJH Bleesing, ... The Journal of Allergy and Clinical Immunology: In Practice 7 (6), 1970-1985. e4, 2019 | 69 | 2019 |
| Late-type vitamin K deficiency bleeding: experience from 120 patients MA Ozdemir, M Karakukcu, H Per, E Unal, H Gumus, T Patiroglu Child's Nervous System 28, 247-251, 2012 | 60 | 2012 |
| Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition*[S] P Grabowski, S Hesse, S Hollizeck, M Rohlfs, U Behrends, R Sherkat, ... Molecular & Cellular Proteomics 18 (4), 760-772, 2019 | 58 | 2019 |
| Childhood stroke: results of 130 children from a reference center in Central Anatolia, Turkey H Per, E Unal, HG Poyrazoglu, MA Ozdemir, H Donmez, H Gumus, ... Pediatric neurology 50 (6), 595-600, 2014 | 57 | 2014 |
| CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis I Somekh, M Thian, D Medgyesi, N Gülez, T Magg, A Gallón Duque, ... Blood Journal, blood. 2019000644, 2019 | 55 | 2019 |
| Torticollis in children: an alert symptom not to be turned away A Tumturk, G Kaya Ozcora, A Kacar Bayram, M Kabaklioglu, S Doganay, ... Child's Nervous System 31, 1461-1470, 2015 | 50 | 2015 |
| Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis B Tesi, K Lagerstedt-Robinson, SCC Chiang, EB Bdira, M Abboud, ... Genome medicine 7, 1-13, 2015 | 47 | 2015 |
| Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86 M Canpolat, H Per, H Gumus, A Yikilmaz, E Unal, T Patiroglu, L Cinar, ... Child's Nervous System 30, 227-240, 2014 | 47 | 2014 |
| A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease T Patiroglu, HH Akar, K Gilmour, E Unal, MA Ozdemir, S Bibi, S Burns, ... Clinical immunology (Orlando, Fla.) 159 (1), 58-62, 2015 | 46 | 2015 |
Musa KarakukcuErciyes UniversityVerified email at erciyes.edu.tr
