| Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M Iqbal, R Maroofian, B Çavdarlı, F Riccardi, M Field, S Banka, ... Genetics in Medicine 23 (11), 2138-2149, 2021 | 13 | 2021 |
| Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation C Çavdarlı, E Şahlı, B Çavdarlı, MN Alp Arquivos Brasileiros de Oftalmologia 83, 149-152, 2020 | 13 | 2020 |
| Duplication 4q associated with chronic cholestatic changes in liver biopsy O Egritas, B Cavdarli, B Dalgic, MA Ergun, F Percin, M Ziegler, B Pohle, ... European Journal of Medical Genetics 53 (6), 411-414, 2010 | 13 | 2010 |
| Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A single-center cohort study S Baştuğ, B Çavdarlı, A Baştuğ, İ Şencan, E Tunçez, EY Çakır, ... Anatolian journal of cardiology 26 (2), 133, 2022 | 10 | 2022 |
| Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency D Yuksel, KK Oguz, E Azapagası, S Kesici, B Cavdarli, B Konuskan, ... Neurology: Clinical Practice 8 (5), e18-e20, 2018 | 10 | 2018 |
| Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings G Kayhan, B Cavdarli, MY Karaoguz, EF Percin, AO Kaymak, A Biri, ... Gene 524 (2), 355-360, 2013 | 10 | 2013 |
| Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations C Çavdarli, B Çavdarli, P Topcu-Yilmaz, B Polat Gültekin Ophthalmic Genetics 41 (3), 257-262, 2020 | 9 | 2020 |
| Association of lysyl oxidase-like 1 gene polymorphism in Turkish patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma M Asfuroglu, B Cavdarli, OG Koz, AA Yarangumeli, EY Ozdemir Journal of Glaucoma 26 (2), e54-e57, 2017 | 9 | 2017 |
| Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child DG Gokcebay, SA Tekgunduz, B Cavdarli European Journal of Medical Genetics 63 (6), 103880, 2020 | 7 | 2020 |
| Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency ES Aytekin, D Çağdaş, Ç Tan, B Çavdarlı, I Bilgiç, İ Tezcan The Turkish Journal of Pediatrics 63 (6), 1072-1077, 2021 | 6 | 2021 |
| High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy B Çavdarlı, ÖY Köken, SBA Satılmış, Ş Bilen, D Ardıçlı, AC Ceylan, ... Annals of human genetics 87 (3), 104-114, 2023 | 5 | 2023 |
| Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer V Sunar, V Korkmaz, V Topcu, B Cavdarli, Z Arik, B Ozdal, YE Ustun Asia‐Pacific Journal of Clinical Oncology 18 (1), 84-92, 2022 | 5 | 2022 |
| Intelligent ratio: A new method for carrier and newborn screening in spinal muscular atrophy B Cavdarli, FN Ozturk, S Guntekin Ergun, MA Ergun, O Dogan, EF Percin Genetic testing and molecular biomarkers 24 (9), 569-577, 2020 | 5 | 2020 |
| A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis A Küçükçongar Yavaş, B Çavdarlı, Ö Ünal Uzun, A Uncuoğlu, M Gündüz Journal of Pediatric Endocrinology and Metabolism 33 (5), 665-669, 2020 | 5 | 2020 |
| Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 4 | 2023 |
| Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies C Cavdarli, B Çavdarlı, MN Alp Ophthalmic Genetics 41 (6), 585-590, 2020 | 4 | 2020 |
| The Effect of BRAF V600E Mutation on Lymph Node Involvement in Papillary Thyroid Cancer S Sahin, G Daglar, E Menekse, B Cavdarli, T Baglan Turkish Journal of Surgery 36 (3), 249, 2020 | 4 | 2020 |
| A novel interleukin 17 receptor A mutation in a child with chronic mucocutaneous candidiasis and staphylococcal skin infections N Yakıcı, SO Halaçlı, Ç Tan, PG Çetinkaya, HT Akar, B Çavdarlı, B Özbek, ... Turkish Archives of Pediatrics 58 (4), 442, 2023 | 3 | 2023 |
| Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience B ÇAVDARLI, ÖK YAYICI, AC CEYLAN, CNS GÜNDÜZ, H TOPALOĞLU Türkiye Çocuk Hastalıkları Dergisi, 1-6, 2021 | 3 | 2021 |
| A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl N Akdogan, P Incel-Uysal, B Cavdarli, V Topcu, B Yalcin Int J Dermatol 58 (5), 611-613, 2019 | 3 | 2019 |
