| Epidemiology and survival of childhood cancer in Turkey R Kebudi, DU Alkaya Pediatric Blood & Cancer 68 (2), e28754, 2021 | 26 | 2021 |
| Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy N Chatron, F Becker, H Morsy, M Schmidts, K Hardies, B Tuysuz, ... Brain 143 (5), 1447-1461, 2020 | 24 | 2020 |
| Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome S Yilmaz, D Uludağ Alkaya, Ö Kasapçopur, K Barut, ES Akdemir, C Celen, ... Molecular genetics & genomic medicine 6 (2), 230-248, 2018 | 21 | 2018 |
| Mucolipidosis type III gamma: three novel mutation and genotype-phenotype study in eleven patients B Tüysüz, Ö Kasapçopur, DU Alkaya, S Şahin, B Sözeri, G Yeşil Gene 642, 398-407, 2018 | 18 | 2018 |
| Clinical and molecular characterization of Fanconi anemia patients in Turkey G Toksoy, D Uludağ Alkaya, G Bagirova, Ş Avcı, A Aghayev, N Günes, ... Molecular syndromology 11 (4), 183-196, 2020 | 12 | 2020 |
| Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants A Yüksel Ülker, D Uludağ Alkaya, L Elkanova, A Şeker, E Akpınar, ... Calcified tissue international 109 (6), 633-644, 2021 | 10 | 2021 |
| Osteogenesis imperfecta in 140 Turkish families: molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants B Tüysüz, L Elkanova, DU Alkaya, Ç Güleç, G Toksoy, N Güneş, H Yazan, ... Bone 155, 116293, 2022 | 9 | 2022 |
| Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1 D Uludağ Alkaya, C Lissewski, G Yeşil, M Zenker, B Tüysüz American Journal of Medical Genetics Part A 185 (12), 3623-3633, 2021 | 9 | 2021 |
| Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey EG Berkay, L Elkanova, T Kalaycı, D Uludağ Alkaya, U Altunoğlu, K Cefle, ... American Journal of Medical Genetics Part A 185 (8), 2488-2495, 2021 | 9 | 2021 |
| Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype B Tüysüz, DU Alkaya, G Toksoy, N Güneş, T Yıldırım, İA Bayhan, ... Gene 704, 59-67, 2019 | 9 | 2019 |
| Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl D Uludağ Alkaya, E Akpınar, K Bilguvar, B Tüysüz American Journal of Medical Genetics Part A 185 (7), 2271-2277, 2021 | 7 | 2021 |
| Early diagnostic signs and the natural history of typical findings in cohen syndrome N Güneş, DU Alkaya, V Demirbilek, C Yalçınkaya, B Tüysüz The Journal of Pediatrics 252, 93-100, 2023 | 5 | 2023 |
| Three offspring with cri-du-chat syndrome from phenotypically normal parents DU Alkaya, B Karaman, B Tüysüz Molecular syndromology 11 (2), 97-103, 2020 | 5 | 2020 |
| Demographic, clinical, and survival features of childhood cancers in Istanbul, Turkey (1990-2012). R Kebudi, D Uludag, ... Journal of Clinical Oncology 32 (15_suppl), e21020-e21020, 2014 | 5 | 2014 |
| Congenital heart defects and outcome in a large cohort of Down syndrome: A single-center experience from Turkey DU Alkaya, B Öztürk, AY Ülker, S Bozlak, E Öztürk, R Dedeoğlu, ... Turkish Archives of Pediatrics 58 (5), 473, 2023 | 4 | 2023 |
| Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants B Tüysüz, H Turan, A Gezdirici, DU Alkaya, B Kasap, G Yeşil, M Vural, ... European journal of medical genetics 64 (12), 104346, 2021 | 4 | 2021 |
| Voriconazole induced bradycardia D Uludağ, N Özdemir, G Tüysüz, AG Eroğlu, T Celkan Pediatric Hematology and Oncology 30 (7), 674-676, 2013 | 4 | 2013 |
| Investigation of 11p15. 5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients B Tüysüz, S Bozlak, D Uludağ Alkaya, S Ocak, B Kasap, E Sunamak Çifçi, ... Cancers 15 (6), 1872, 2023 | 3 | 2023 |
| The clinical and molecular spectrum of trichorhinophalangeal syndrome types I and II in a Turkish cohort involving 22 patients N Güneş, E Usluer, AY Ülker, DU Alkaya, EÇ Sunamak, FC Eyüpoğlu, ... Turkish Archives of Pediatrics 58 (1), 98, 2023 | 3 | 2023 |
| Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome AO Caglayan, B Tuysuz, E Gül, DU Alkaya, C Yalcinkaya, JG Gleeson, ... Journal of human genetics 67 (9), 553-556, 2022 | 3 | 2022 |
