| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 327 | 2015 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 191 | 2015 |
| Chromosome heteromorphisms: an impact on infertility FI Sahin, Z Yilmaz, OO Yuregir, T Bulakbasi, O Ozer, HB Zeyneloglu Journal of assisted reproduction and genetics 25, 191-195, 2008 | 138 | 2008 |
| Phenotypic expansion illuminates multilocus pathogenic variation LJR Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN ... Genet Med, 2018 | 131 | 2018 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 122 | 2016 |
| Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 114 | 2016 |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 64 | 2021 |
| Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome E Karaca, OO Yuregir, ST Bozdogan, H Aslan, D Pehlivan, SN Jhangiani, ... American journal of medical genetics Part A 167 (11), 2795-2799, 2015 | 63 | 2015 |
| Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes AE Solmaz, H Onay, T Atik, A Aykut, MC Gunes, OO Yuregir, VN Bas, ... European journal of medical genetics 58 (12), 689-694, 2015 | 59 | 2015 |
| Detecting methylation patterns of p16, MGMT, DAPK and E‐cadherin genes in multiple myeloma patients OO Yuregir, E Yurtcu, E Kizilkilic, NE Kocer, H Ozdogu, FI Sahin International Journal of Laboratory Hematology 32 (2), 142-149, 2010 | 52 | 2010 |
| Fluorescent in situ hybridization studies in multiple myeloma OO Yuregir, FI Sahin, Z Yilmaz, E Kizilkilic, S Karakus, H Ozdogu Hematology 14 (2), 90-94, 2009 | 48 | 2009 |
| Alpha-thalassemia mutations in Adana Province, southern Turkey: genotype-phenotype correlation ST Bozdogan, OO Yuregir, N Buyukkurt, H Aslan, ZC Ozdemir, T Gambin Indian Journal of Hematology and Blood Transfusion 31, 223-228, 2015 | 27 | 2015 |
| Prenatal (doğum öncesi) tanı ÖÖ Yüreğir, S Büyükkurt, F Koç, A Pazarbaşı Arşiv Kaynak Tarama Dergisi 21 (1), 2012 | 23 | 2012 |
| Validity and reliability of the Turkish version of the London chest activity of daily living scale in obstructive lung diseases S Saka, S Savcı, EÇ Kütükcü, M Sağlam, NV Yağlı, Dİ İnce, MB Güçlü, ... Turkish thoracic journal 21 (2), 116, 2020 | 19 | 2020 |
| Developmental genomics of limb malformations: allelic series in association with gene dosage effects contribute to the clinical variability R Duan, H Hijazi, EY Gulec, HK Eker, SR Costa, Y Sahin, Z Ocak, S Isikay, ... Human Genetics and Genomics Advances 3 (4), 2022 | 17 | 2022 |
| Plasminogen activator inhibitor-1 5G/5G genotype is associated with early spontaneous recanalization of the infarct-related artery in patients presenting with acute ST … CE Cagliyan, OO Yuregir, M Balli, K Tekin, RE Akilli, ST Bozdogan, ... Coronary artery disease 24 (3), 196-200, 2013 | 16 | 2013 |
| The prevalence of gap junction protein beta 2 (GJB2) mutations in non syndromic sensorineural hearing loss in cukurova region. ST Bozdoğan, G Kuran, ÖÖ Yüregir, H Aslan, S Haytoğlu, A Ayaz, ... Journal of International Advanced Otology 11 (2), 2015 | 15 | 2015 |
| Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families M Traverso, OO Yuregir, A Mimouni-Bloch, A Rossi, H Aslan, E Gazzerro, ... European Journal of Paediatric Neurology 17 (1), 108-111, 2013 | 14 | 2013 |
| Ethical considerations regarding parental decisions for termination following prenatal diagnosis of sex chromosome abnormalities Z Yilmaz, FI Sahin, T Bulakbasi, OO Yuregir, E Tarim, F Yanik Genetic Counseling 19 (3), 345, 2008 | 14 | 2008 |
| A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1) FSS Kent W Small, Stijn Van de Sompele, Karen Nuytemans, Andrea Vincent ... Molecular Vision, 2021 | 11 | 2021 |
