| 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 | 45 | 2017 |
| Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oro-nasopharyngeal swabs OA Dogan, B Kose, NB Agaoglu, J Yildiz, G Alkurt, YK Demirkol, A Irvem, ... Journal of virological methods 290, 114049, 2021 | 37 | 2021 |
| 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 | 19 | 2021 |
| Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases B Sözeri, F Demir, HE Sönmez, ŞG Karadağ, YK Demirkol, ÖA Doğan, ... Clinical Rheumatology 40, 2327-2337, 2021 | 16 | 2021 |
| The same mutation in a family with adenosine deaminase 2 deficiency B Sozeri, G Ercan, OA Dogan, J Yıldız, F Demir, L Doğanay Rheumatology International 41 (1), 227-233, 2021 | 16 | 2021 |
| Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases F Demir, ÖA Doğan, YK Demirkol, KE Tekkuş, S Canbek, ŞG Karadağ, ... Clinical rheumatology 39, 3733-3745, 2020 | 16 | 2020 |
| The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey. I Karacan, TK Akgun, NB Agaoglu, A Irvem, G Alkurt, J Yildiz, B Kose, ... Northern Clinics of Istanbul 7 (3), 2020 | 15 | 2020 |
| 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 |
| Peters Plus syndrome: a recognizable clinical entity G ÜREL DEMİR, NAZ Lafci, P Dogan, P ŞİMŞEK KİPER, G ÜTİNE Turkish Journal of Pediatrics 62 (1), 2020 | 12 | 2020 |
| A case of leukoencephalopathy and small vessels disease caused by a novel HTRA1 homozygous mutation T Gündüz, Y Demirkol, Ö Doğan, S Demir, NH Akçakaya Journal of Stroke and Cerebrovascular Diseases 28 (11), 104354, 2019 | 12 | 2019 |
| Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels NB Agaoglu, B Unal, O Akgun Dogan, MO Kanev, P Zolfagharian, ... European Journal of Human Genetics 30 (3), 378-383, 2022 | 10 | 2022 |
| ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes O Akgun‐Dogan, PO Simsek‐Kiper, E Taskiran, C Lissewski, J Brinkmann, ... American Journal of Medical Genetics Part A 179 (12), 2474-2480, 2019 | 9 | 2019 |
| 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 |
| Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification G Ürel-Demir, PO Simsek-Kiper, Ö Akgün-Doğan, R Göçmen, Z Wang, ... Journal of Human Genetics 63 (9), 1003-1007, 2018 | 9 | 2018 |
| COVID-19 PCR test performance on samples stored at ambient temperature NB Agaoglu, J Yildiz, OA Dogan, B Kose, G Alkurt, YK Demirkol, A Irvem, ... Journal of Virological Methods 301, 114404, 2022 | 8 | 2022 |
| Two siblings with Kaufman oculocerebrofacial syndrome resembling oculoauriculovertebral spectrum G Ürel-Demir, B Aydın, B Karaosmanoğlu, Ö Akgün-Doğan, EZ Taşkıran, ... Molecular Syndromology 12 (2), 106-111, 2021 | 8 | 2021 |
| The musculoskeletal system manifestations in children with familial Mediterranean fever F Demir, GL Bolac, T Merter, S Canbek, OA Dogan, YK Demirkol, J Yildiz, ... North Clin Istanb 7 (5), 438-42, 2020 | 8 | 2020 |
| Responding to COVID-19 in Istanbul: Perspective from genomic laboratory L Doganay, NB Agaoglu, A Irvem, G Alkurt, J Yildiz, B Kose, YK Demirkol, ... Northern Clinics of İstanbul 7 (3), 311, 2020 | 8 | 2020 |
| Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry GE Utine, PÖ Şimşek-Kiper, Ö Akgün-Doğan, G Ürel-Demir, Y Alanay, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 221, 76-80, 2018 | 8 | 2018 |
| Clinical features of generalized lipodystrophy in Turkey: a cohort analysis I Yildirim Simsir, B Tuysuz, MN Ozbek, S Tanrikulu, M Celik Guler, ... Diabetes, Obesity and Metabolism 25 (7), 1950-1963, 2023 | 7 | 2023 |
