| 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 | 54 | 2015 |
| Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum M Sukalo, A Fiedler, C Guzmán, S Spranger, MC Addor, JN Mcheik, ... Human mutation 35 (5), 521-531, 2014 | 48 | 2014 |
| Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies B Özyilmaz, Ö Kirbiyik, TR Özdemir, Ö Kaya Özer, YB Kutbay, ... Annals of Human Genetics 83 (5), 331-347, 2019 | 38 | 2019 |
| Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY) TR Özdemir, Ö Kırbıyık, BN Dündar, A Abacı, ÖÖ Kaya, G Çatlı, ... Journal of Pediatric Endocrinology and Metabolism 31 (12), 1295-1304, 2018 | 27 | 2018 |
| Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a … A Abacı, G Çatlı, Ö Kırbıyık, NM Şahin, ZY Abalı, E Ünal, Z Şıklar, ... Journal of Endocrinological Investigation 42, 453-470, 2019 | 25 | 2019 |
| Long‐term evaluation of chromosomal breakages after radioisotope synovectomy for treatment of target joints in patients with haemophilia K Kavakli, O Cogulu, S Aydogdu, H Ozkilic, B Durmaz, O Kirbiyik, ... Haemophilia 16 (3), 474-478, 2010 | 22 | 2010 |
| A novel homozygous selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) gene mutation in a Turkish boy G Çatli, H Fujisawa, Ö Kirbiyik, MS Mimoto, P Gençpinar, TR Özdemir, ... Thyroid 28 (9), 1221-1223, 2018 | 21 | 2018 |
| The clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 mutations P Arican, P Gencpinar, O Kirbiyik, SB Yilmaz, A Ersen, O Oztekin, ... Pediatric neurology 99, 55-59, 2019 | 18 | 2019 |
| Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study TR Özdemir, B Özyılmaz, Ö Çakmak, ÖÖ Kaya, C Köse, Ö Kırbıyık, ... Turkish journal of urology 46 (2), 95, 2020 | 17 | 2020 |
| Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study A Koc, O Ozer Kaya, B Ozyilmaz, YB Kutbay, O Kirbiyik, TR Ozdemir, ... Molecular Genetics & Genomic Medicine 7 (7), e00678, 2019 | 15 | 2019 |
| Experiences in microarray‐based evaluation of developmental disabilities and congenital anomalies B Ozyilmaz, O Kirbiyik, A Koc, TR Ozdemir, OO Kaya, MS Guvenc, ... Clinical genetics 92 (4), 372-379, 2017 | 14 | 2017 |
| Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. O Ilhan, Y Pekcevik, S Akbay, SA Ozdemir, S Memur, B Kanar, O Kirbiyik, ... Archivos Argentinos de Pediatría 116 (1), e130-e134, 2018 | 12 | 2018 |
| Molecular genetic evaluation of NLRP 3, MVK and TNFRSF 1A associated periodic fever syndromes B Ozyilmaz, O Kirbiyik, A Koc, TR Ozdemir, O Kaya Ozer, YB Kutbay, ... International Journal of Immunogenetics 46 (4), 232-240, 2019 | 10 | 2019 |
| cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies A Koc, T Goksel, L Pelit, K Korba, TN Dizdas, E Baysal, UC Uzun, ... Journal of Breath Research 13 (3), 036006, 2019 | 9 | 2019 |
| Fetal HLA-G alleles and their effect on miscarriage. A Koç, Ö Kırbıyık, YB Kutbay, B Özyılmaz, TR Özdemir, ÖÖ Kaya, G Kubat, ... Advances in Clinical & Experimental Medicine 27 (9), 2018 | 8 | 2018 |
| Experiences in the molecular genetic and histopathological evaluation of calpainopathies B Ozyilmaz, O Kirbiyik, TR Ozdemir, OK Ozer, YB Kutbay, KM Erdogan, ... neurogenetics 23 (2), 103-114, 2022 | 6 | 2022 |
| Two cases with ring chromosome 13 at either end of the phenotypic spectrum S Çakmaklı, T Çankaya, S Gürsoy, A Koç, Ö Kırbıyık, ÖA Kılıçarslan, ... Cytogenetic and Genome Research 153 (4), 175-180, 2018 | 6 | 2018 |
| QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey ÖÖ Kaya, A Koç, TR Özdemir, Ö Kirbiyik, B Özyilmaz, M Özeren, ... Turkish Journal of Medical Sciences 47 (1), 142-147, 2017 | 6 | 2017 |
| Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven‐Year Period O Cogulu, F Ozkinay, H Akin, H Onay, E Karaca, AA Durmaz, B Durmaz, ... Journal of Genetic Counseling 20 (3), 287-293, 2011 | 6 | 2011 |
| The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey B Durmaz, A Alpman, E Pariltay, M Akgul, E Ataman, O Kirbiyik, O Cogulu, ... Genetic Testing and Molecular Biomarkers 13 (2), 163-166, 2009 | 6 | 2009 |
