| Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies P Arts, A Simons, MS AlZahrani, E Yilmaz, E AlIdrissi, KJ Van Aerde, ... Genome medicine 11 (1), 1-15, 2019 | 73 | 2019 |
| Recent advances in craniosynostosis E Yilmaz, E Mihci, B Nur, ÖM Alper, Ş Taçoy Pediatric neurology 99, 7-15, 2019 | 58 | 2019 |
| Consequences of the increasing prevalence of the poisonous Lagocephalus sceleratus in southern Turkey AB Beköz, S Beköz, E Yilmaz, S Tüzün, Ü Beköz Emergency medicine journal 30 (11), 954-955, 2013 | 31 | 2013 |
| MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss G Bademci, C Abad, A Incesulu, A Rad, O Alper, SM Kolb, FB Cengiz, ... Human genetics 137 (6), 479-486, 2018 | 28 | 2018 |
| Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia DD Eksi, Y Shen, M Erman, LP Chorich, ME Sullivan, M Bilekdemir, ... Molecular cytogenetics 11 (1), 1-8, 2018 | 21 | 2018 |
| Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease P Bhattarai, TI Gunasekaran, ME Belloy, D Reyes-Dumeyer, D Jülich, ... Acta Neuropathologica 147 (1), 1-20, 2024 | 18 | 2024 |
| Nerve growth factor receptor (Ngfr) induces neurogenic plasticity by suppressing reactive astroglial Lcn2/Slc22a17 signaling in Alzheimer’s disease T Siddiqui, MI Cosacak, S Popova, P Bhattarai, E Yilmaz, AJ Lee, Y Min, ... NPJ Regenerative Medicine 8 (1), 33, 2023 | 17 | 2023 |
| Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy HH Wong, SH Seet, M Maier, A Gurel, RM Traspas, C Lee, S Zhang, ... The American Journal of Human Genetics, 2021 | 17 | 2021 |
| A novel AXIN2 gene mutation in sagittal synostosis E Yilmaz, E Mihci, B Guzel Nur, OM Alper American Journal of Medical Genetics Part A 176 (9), 1976-1980, 2018 | 17 | 2018 |
| Perinatal diagnostic approach to fetal skeletal dysplasias: six years experience of a tertiary center HS Toru, BG Nur, CY Sanhal, E Mihci, İ Mendilcioğlu, E Yilmaz, GT Yilmaz, ... Fetal and pediatric pathology 34 (5), 287-306, 2015 | 12 | 2015 |
| Novel Gene Variants Associated with Primary Ciliary Dyskinesia D Demir Eksi, E Yilmaz, AE Basaran, G Erduran, B Nur, E Mihci, ... Indian Journal of Pediatrics, 1-10, 2022 | 9 | 2022 |
| Clinical and genetic findings of two cases with Apert syndrome F Cammarata-Scalisi, E Yilmaz, M Callea, A Avendaño, E Mıhçı, OM Alper Boletín médico del Hospital Infantil de México 76 (1), 44-48, 2019 | 8 | 2019 |
| SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation M Nashabat, N Nabavizadeh, HP Saraçoğlu, B Sarıbaş, Ş Avcı, E Börklü, ... Nature Communications 15 (1), 1758, 2024 | 3 | 2024 |
| ABCA7-dependent Neuropeptide-Y signalling is a resilience mechanism required for synaptic integrity in Alzheimer's disease H Tayran, E Yilmaz, P Bhattarai, Y Min, X Wang, Y Ma, N Nelson, ... bioRxiv, 2024.01. 02.573893, 2024 | 3 | 2024 |
| Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children AE Başaran, A Başaran, DFK Uygun, E Yılmaz, A Moballegh, L Öz, ... infection 10, 11, 2021 | 3 | 2021 |
| Coronal craniosynostosis due to TCF12 mutations in patients from Turkey E Yilmaz, E Mihci, B Nur, OM Alper American Journal of Medical Genetics Part A 179 (11), 2241-2245, 2019 | 3 | 2019 |
| Hipertansiyonda D Vitamini ile İlişkili Genetik Polimorfizmlerin Rolü GÜL ÖZBEY, E YILMAZ, S DALAKLIOĞLU, Ö ALPER MN Kardiyoloji 24 (1), 42-49, 2017 | 2 | 2017 |
| MU-BRAIN: MUltiethnic Brain Rna-seq for Alzheimer INitiative Z Yang, B Cieza, D Reyes-Dumeyer, A Lee, Y Ma, E Yilmaz, R Lantigua, ... bioRxiv, 2024.02. 20.581250, 2024 | 1 | 2024 |
| Rare genetic variation in Fibronectin 1 (FN1) protects against APOEe4 in Alzheimer's disease P Bhattarai, TI Gunasekaran, D Reyes-Dumeyer, D Jülich, H Tayran, ... bioRxiv, 2024.01. 02.573895, 2024 | | 2024 |
| Functional investigation of the gliovascular niche‐related genes and their relevance to Alzheimer’s disease pathomechanisms in zebrafish P Bhattarai, MI Cosacak, AJ Lee, E Yilmaz, O Is, X Wang, BN Vardarajan, ... Alzheimer's & Dementia 19, e073812, 2023 | | 2023 |
Alper Ozgul MDepartment of Medical Biology and Genetics, Akdeniz University, Antalya, TurkeyVerified email at akdeniz.edu.tr