| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 113 | 2018 |
| Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case–control study S Vural, M Gündoğdu, E Gökpınar İli, CD Durmaz, A Vural, ... British Journal of Dermatology 180 (6), 1459-1467, 2019 | 33 | 2019 |
| Skin-dominant phenotype in a patient with H syndrome: identification of a novel mutation in the SLC29A3 gene S Vural, P Ertop, CD Durmaz, H Şanlı, A Okçu Heper, N Kundakçı, ... Cytogenetic and Genome Research 151 (4), 186-190, 2017 | 14 | 2017 |
| Autosomal recessive oculodentodigital dysplasia: a case report and review of the literature E Taşdelen, CD Durmaz, HG Karabulut Cytogenetic and Genome Research 154 (4), 181-186, 2018 | 13 | 2018 |
| A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome CD Durmaz, G Evans, MJ Smith, P Ertop, BN Akay, T Tuncalı Cytogenetic and Genome Research 154 (2), 57-61, 2018 | 9 | 2018 |
| Ectopic posterior pituitary, polydactyly, midfacial hypoplasia and multiple pituitary hormone deficiency due to a novel heterozygous IVS11-2A> C (c. 1957-2A> C) mutation in the … M Demiral, H Demirbilek, E Unal, CD Durmaz, S Ceylaner, MN Özbek Journal of Clinical Research in Pediatric Endocrinology 12 (3), 319, 2020 | 8 | 2020 |
| Bilateral choanal atresia in an adult woman with pycnodysostosis CD Durmaz, V Taş, P Kocaay, ÖS Fitöz, H Onay, S Beton, F Özkınay, ... Congenital Anomalies 57 (3), 91-92, 2017 | 8 | 2017 |
| Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey A Bisgin, SO Sag, ME Dogan, MS Yildirim, AA Gumus, N Akkus, O Balasar, ... The Breast 65, 15-22, 2022 | 7 | 2022 |
| Unusual chromosomal rearrangement resulted in interstitial monosomy 9p: case report CD Durmaz, K Yararbaş, NY Kutlay, Ö Türedi, İ Akın, C Gürbüz, G Karataş, ... Cytogenetic and Genome Research 148 (1), 19-24, 2016 | 7 | 2016 |
| BAYLOR-HOPKINS CENTER FOR Mendelian, G., Brunner, HG, Sutton, VR, Lupski, JR & Carvalho, CMB 2018. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow … JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... Am J Hum Genet 102, 27-43, 0 | 6 | |
| MASP1‐related 3MC syndrome in a patient from Turkey CD Durmaz, Ş Altıner American Journal of Medical Genetics Part A 185 (7), 2267-2270, 2021 | 5 | 2021 |
| Primary hypertrophic osteoarthropathy mimicking juvenile idiopathic arthritis: a novel SLCO2A1 mutation and imaging findings M Torgutalp, CD Durmaz, HG Karabulut, W Seifert, D Horn, Z Akkaya, ... Cytogenetic and Genome Research 158 (3), 126-132, 2019 | 5 | 2019 |
| A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita E Okulu, CD Durmaz, G Tunc, A Guzel, NY Kutlay, O Erdeve, B Atasay, ... Egyptian Journal of Medical Human Genetics 21, 1-4, 2020 | 4 | 2020 |
| A novel PORCN frameshift mutation leading to focal dermal hypoplasia: A case report CD Durmaz, J McGrath, L Liu, HG Karabulut Cytogenetic and Genome Research 154 (3), 119-121, 2018 | 4 | 2018 |
| Extending phenotypic spectrum of 17q22 microdeletion: growth hormone deficiency CD Durmaz, Ş Altıner, E Taşdelen, HG Karabulut, HI Ruhi Fetal and Pediatric Pathology 40 (5), 486-492, 2021 | 3 | 2021 |
| FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature A Tekmenuray-Unal, CD Durmaz Molecular Syndromology 14 (1), 80-88, 2023 | 2 | 2023 |
| Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS) E Gökpınar İli, E Taşdelen, CD Durmaz, Ş Altıner, T Tuncalı, ... American Journal of Medical Genetics Part A 188 (6), 1792-1800, 2022 | 2 | 2022 |
| Undifferentiated melanoma resembling undifferentiated round cell sarcoma: the diagnostic power of molecular melanoma signature A Kavuncuoglu, CD Durmaz, O Gokoz, A Uner, K Kosemehmetoglu International Journal of Surgical Pathology 30 (3), 346-349, 2022 | 2 | 2022 |
| Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa P Ertop, S Vural, E Gökpınar Ili, CD Durmaz, AO Heper, JA McGrath, ... International Journal of Dermatology 59 (7), 851-855, 2020 | 2 | 2020 |
| H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin I An, CD Durmaz, HI Ruhi, P Ertop, M Ozturk, B Sula, N Ecer Hong Kong J Dermatology Venereol 27, 137-40, 2019 | 2 | 2019 |
