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| 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 | 184 | 2015 |
| Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly N Link, H Chung, A Jolly, M Withers, B Tepe, BR Arenkiel, PS Shah, ... Developmental cell 51 (6), 713-729. e6, 2019 | 81 | 2019 |
| DNA damage is increased in lymphocytes of patients with metabolic syndrome A Karaman, H Aydın, B Geckinli, A Cetinkaya, S Karaman Mutation Research/Genetic Toxicology and Environmental Mutagenesis 782, 30-35, 2015 | 66 | 2015 |
| 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 | 50 | 2021 |
| Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia D Pehlivan, E Karaca, H Aydin, CR Beck, T Gambin, DM Muzny, ... European Journal of Human Genetics 22 (9), 1145-1148, 2014 | 44 | 2014 |
| Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome A Uzumcu, B Karaman, G Toksoy, ZO Uyguner, S Candan, H Eris, B Tatli, ... European journal of medical genetics 52 (5), 315-320, 2009 | 35 | 2009 |
| Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency BB Geckinli, G Toksoy, C Sayar, MA Soylemez, G Yesil, H Aydın, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 182 …, 2014 | 31 | 2014 |
| Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome DA Dyment, A O'Donnell‐Luria, PB Agrawal, Z Coban Akdemir, KA Aleck, ... American Journal of Medical Genetics Part A 185 (1), 119-133, 2021 | 17 | 2021 |
| Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g. 20210G> A, and MTHFR variations in prenatallydiagnosed neural tube … H Aydin, R Arisoy, A Karaman, E Erdoğdu, A Cetinkaya, BB GEÇKİNLİ, ... Turkish journal of medical sciences 46 (2), 489-494, 2016 | 16 | 2016 |
| Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency A Turkyilmaz, C Alavanda, EA Ates, BB Geckinli, H Polat, M Gokcu, ... Journal of Assisted Reproduction and Genetics 39 (3), 695-710, 2022 | 12 | 2022 |
| Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome A Uzumcu, S Candan, G Toksoy, ZO Uyguner, B Karaman, H Eris, B Tatli, ... Journal of genetics and genomics 36 (4), 251-256, 2009 | 11 | 2009 |
| Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population N Duman, G Tuncel, A Bisgin, ST Bozdogan, SO Sag, S Gul, A Kiraz, ... Journal of medical virology 94 (11), 5225-5243, 2022 | 10 | 2022 |
| Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ... Functional & integrative genomics 22 (3), 291-315, 2022 | 10 | 2022 |
| Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects SB Kaygusuz, E Arslan Ates, ML Vignola, B Volkan, BB Geckinli, S Turan, ... The Journal of Clinical Endocrinology & Metabolism 106 (10), e4142-e4154, 2021 | 9 | 2021 |
| Clinical report of a patient with de novo trisomy 12q23. 1q24. 33 BB Geckinli, H Aydin, A Karaman, K Delil, H Simsek, E Gokmeydan, ... Genet Couns 26 (4), 393-400, 2015 | 9 | 2015 |
| A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. M Seven, Z Suyugül, A Yüksel, B Geckinli, S Hacihanefioğlu, A Cenani The Turkish Journal of Pediatrics 40 (4), 593-601, 1998 | 7 | 1998 |
| Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia A Kiraz, O Sezer, A Alemdar, S Canbek, N Duman, A Bisgin, T Cora, ... Journal of medical virology 95 (2), e28457, 2023 | 6 | 2023 |
| Array-based comparative genomic hybridization analysis in children with developmental delay/intellectual disability A Türkyılmaz, BB Geckinli, E Tekin, EA Ates, O Yarali, AH Cebi, A Arman Balkan Journal of Medical Genetics 24 (2), 15-24, 2022 | 6 | 2022 |
| Secondary findings in 622 Turkish clinical exome sequencing data E Arslan Ateş, A Türkyilmaz, Ö Yıldırım, C Alavanda, H Polat, Ş Demir, ... Journal of Human Genetics 66 (11), 1113-1119, 2021 | 6 | 2021 |
